SNPs Identified in ALMS1

Project 5 > SNP Discovery and Genotyping > Candidate Gene List > ALMS1 Main Page > SNPs Identified in ALMS1

Validated SNPs Identified by Resequencing in ALMS1

Reference cDNA sequence (GenBank): NM_015120

Whitehead Internal ID Position in cDNA NM_015120 UCSC Coordinates Polymorphism Type Flanking Sequence Minor Allele Frequency in Caucasians Alternate Amino Acids Alternate Nucleotides

WIPGA_03_496 chr2:73624466 Intronic view G/A

WIPGA_03_497 chr2:73624660 Intronic view T/A

WIPGA_03_500 1255 chr2:73626475 Mis-sense view T382A A/G

WIPGA_03_501 1285 chr2:73626505 Missense view R392C C/T

WIPGA_03_502 chr2:73633994 Intronic view C/T

WIPGA_03_503 2107 chr2:73650191 Mis-sense view T666A A/G

WIPGA_03_504 2123 chr2:73650207 Missense view V671G T/G

WIPGA_03_505 2298 chr2:73650382 Silent view F729F C/T

WIPGA_03_506 2427 chr2:73650511 Silent view L772L G/A

WIPGA_03_507 2462 chr2:73650546 Mis-sense view E784G A/G

WIPGA_03_508 3301 chr2:73651385 Mis-sense view S1064P T/C

WIPGA_03_509 5070 chr2:73653154 Mis-sense view K1653N G/T

WIPGA_03_510 5734 chr2:73653818 Missense view I1875V A/G

WIPGA_03_511 5894 chr2:73653978 Mis-sense view R1928Q G/A

WIPGA_03_512 6320 chr2:73654404 Mis-sense view I2070T T/C

WIPGA_03_513 6410 chr2:73654494 Mis-sense view S2100L C/T

WIPGA_03_514 6444 chr2:73654528 Missense view S2111R T/A

WIPGA_03_515 6860 chr2:73654944 Mis-sense view D2250G A/G

WIPGA_03_517 6962 chr2:73655046 Missense view R2284P G/C

WIPGA_03_518 chr2:73656794 Intronic view T/C

WIPGA_03_519 7832 chr2:73691348 Missense view N2574S A/G

WIPGA_03_520 8125 chr2:73691641 Missense view D2672H G/C

WIPGA_03_521 8589 chr2:73692105 Missense view R2826S G/T

WIPGA_03_522 8678 chr2:73692194 Mis-sense view N2856S A/G

WIPGA_03_524 chr2:73693246 Intronic view G/A

WIPGA_03_525 9669 chr2:73721461 Silent view T3186T C/T

WIPGA_03_527 10572 chr2:73774006 Silent view V3487V A/G

WIPGA_03_528 11331 chr2:73774765 Silent view E3740E G/A

WIPGA_03_529 11629 chr2:73775063 Mis-sense view E3840K G/A

WIPGA_03_531 chr2:73775227 Intronic view G/A

WIPGA_03_532 chr2:73802848 "Intronic, 3' Splice Site" view T/C

WIPGA_03_533 12102 chr2:73802981 Mis-sense view R3997S G/C

WIPGA_03_534 12197 chr2:73803076 Missense view R4029K G/A

WIPGA_03_535 chr2:73803133 Intronic view C/T

WIPGA_03_536 chr2:73803134 Intronic view G/A

WIPGA_03_537 chr2:73810444 Intronic view G/C

Whitehead Internal ID	Position in cDNA NM_015120	UCSC Coordinates	Polymorphism Type	Flanking Sequence	Alternate Amino Acids	Alternate Nucleotides
WIPGA_03_496		chr2:73624466	Intronic	view		G/A
WIPGA_03_497		chr2:73624660	Intronic	view		T/A
WIPGA_03_500	1255	chr2:73626475	Mis-sense	view	T382A	A/G
WIPGA_03_501	1285	chr2:73626505	Missense	view	R392C	C/T
WIPGA_03_502		chr2:73633994	Intronic	view		C/T
WIPGA_03_503	2107	chr2:73650191	Mis-sense	view	T666A	A/G
WIPGA_03_504	2123	chr2:73650207	Missense	view	V671G	T/G
WIPGA_03_505	2298	chr2:73650382	Silent	view	F729F	C/T
WIPGA_03_506	2427	chr2:73650511	Silent	view	L772L	G/A
WIPGA_03_507	2462	chr2:73650546	Mis-sense	view	E784G	A/G
WIPGA_03_508	3301	chr2:73651385	Mis-sense	view	S1064P	T/C
WIPGA_03_509	5070	chr2:73653154	Mis-sense	view	K1653N	G/T
WIPGA_03_510	5734	chr2:73653818	Missense	view	I1875V	A/G
WIPGA_03_511	5894	chr2:73653978	Mis-sense	view	R1928Q	G/A
WIPGA_03_512	6320	chr2:73654404	Mis-sense	view	I2070T	T/C
WIPGA_03_513	6410	chr2:73654494	Mis-sense	view	S2100L	C/T
WIPGA_03_514	6444	chr2:73654528	Missense	view	S2111R	T/A
WIPGA_03_515	6860	chr2:73654944	Mis-sense	view	D2250G	A/G
WIPGA_03_517	6962	chr2:73655046	Missense	view	R2284P	G/C
WIPGA_03_518		chr2:73656794	Intronic	view		T/C
WIPGA_03_519	7832	chr2:73691348	Missense	view	N2574S	A/G
WIPGA_03_520	8125	chr2:73691641	Missense	view	D2672H	G/C
WIPGA_03_521	8589	chr2:73692105	Missense	view	R2826S	G/T
WIPGA_03_522	8678	chr2:73692194	Mis-sense	view	N2856S	A/G
WIPGA_03_524		chr2:73693246	Intronic	view		G/A
WIPGA_03_525	9669	chr2:73721461	Silent	view	T3186T	C/T
WIPGA_03_527	10572	chr2:73774006	Silent	view	V3487V	A/G
WIPGA_03_528	11331	chr2:73774765	Silent	view	E3740E	G/A
WIPGA_03_529	11629	chr2:73775063	Mis-sense	view	E3840K	G/A
WIPGA_03_531		chr2:73775227	Intronic	view		G/A
WIPGA_03_532		chr2:73802848	"Intronic, 3' Splice Site"	view		T/C
WIPGA_03_533	12102	chr2:73802981	Mis-sense	view	R3997S	G/C
WIPGA_03_534	12197	chr2:73803076	Missense	view	R4029K	G/A
WIPGA_03_535		chr2:73803133	Intronic	view		C/T
WIPGA_03_536		chr2:73803134	Intronic	view		G/A
WIPGA_03_537		chr2:73810444	Intronic	view		G/C

Download a spreadsheet containing this information for all CardioGenomics SNPS which were identified by resequencing of candidate genes:

Page last modified September 14, 2005.

Project 5 > SNP Discovery and Genotyping > Candidate Gene List > ALMS1 Main Page > SNPs Identified in ALMS1