Reference SNP(refSNP) Cluster Report: rs2551697

Reference SNP(refSNP) Cluster Report: rs2551697

refSNP ID: rs2551697
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_000637.2:c.306+4463C>T
NT_007995.14:g.901358G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss43308407 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2551697 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss3581151	SC_JCM\|AC009314.4_116217	fwd/B	C/T	tgagtgtactgattctgtgataagaataac	aggttcctgtggttttggcgagtagtactt	09/24/01	10/10/03	100	Genomic	unknown
ss17210471	CSHL-HAPMAP\|CSHL-HuAA-200402.chr8.NT_007995.13_901358	rev/T	A/G	aagtactactcgccaaaaccacaggaacct	gttattcttatcacagaatcagtacactca	02/17/04	03/04/04	120	Genomic	unknown
ss22667669	SSAHASNP\|WGSA-200403-chr8.chr8.NT_007995.13_901358	rev/T	A/G	aagtactactcgccaaaaccacaggaacct	gttattcttatcacagaatcagtacactca	03/21/04	03/21/04	121	Genomic	unknown
ss43308407	ABI\|hCV3016445	rev/T	A/G	aagtactactcgccaaaaccacaagaacct	gttattcttatcacagaatcagtacactca	07/18/05	07/18/05	126	Genomic	unknown
ss77701016	HGSV\|Cor12156_SNV_20070510.chr8_30700126	rev/T	A/G	aagtactactcgccaaaaccacaggaacct	gttattcttatcacagaatcagtacactca	10/09/07	10/14/07	129	Genomic	unknown
ss93864663	BCMHGSC_JDW\|JWB-2448819	rev/T	A/G	aagtactactcgccaaaaccacaggaacct	gttattcttatcacagaatcagtacactca	02/26/08	03/05/08	129	Genomic	unknown

Fasta sequence (Legend)

 GGTAGATACC ACTGAGCCTT GCTTGAATTC AGCATTTCAA GTCTCCAAAA GGTTAAGTAT
 ATTGCTTATC TCATGATCTC GTGTAGACTG GAGAGAAATG CAAAGATCGC CCAAAGTCAA
 GGTGAATTAG AGCCTTCTGG GAGCTTTGCC TCTGTGGTTC GCTTCTCTGC CTACACATGT
 GATGGGAGAG TCAGCTTAAG GAAAAGTTGT TTCTAAATTG CTGCTCCCTT TGCCCCAGGG
 CCTGGGGAAC TTGCGGTCCT GGGTTCCTGC TGAGTGTACT GATTCTGTGA TAAGAATAAC
 Y
 AGGTTCTTGT GGTTTTGGCG AGTAGTACTT ACCAATGAGA GTTGGGTAGT AAGGGTTGAT
 CATGTGACAA AAGTTCATGA TTGCCAAGTC ACAGTGAACT ATGCTGCACA GCAGCAGTTG
 GAGAGGCCTA GGGGAGAGAG AGGTAGGGGC TTTGAAAGAT CAGTGAACAG CAGGCTGCTC
 AGTGAATCAT TGTTCATCTA GGCTGAAAAC AATTACCCAG CAACATGTAA ATCATAACCT
 CATTTGGAAG TGATACTGTG TACTTTGATA TTATGATGTC TATACCCTGA TAAAGCTGAA

GeneView

GeneView via analysis of contig annotation: GSR glutathione reductase

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_007995->NM_000637

function

HuRef

NW_001839128->NM_000637

function

Celera

NW_923907->NM_000637

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_007995->NM_000637->NP_000628	901358	reverse	intron

HuRef	NW_001839128->NM_000637->NP_000628	8185650	forward	intron

Celera	NW_923907->NM_000637->NP_000628	18106953	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2551697 maps exactly once on NCBI human chromosome 8

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
8	NW_001839128.2	8185650	29125356	plus	T	alt_assembly_8	HuRef	HuRef	view	300
8	NW_923907.1	18106953	29539115	minus	A	alt_assembly_1	Celera	Celera	view	300
8	NT_007995.14	901358	30700126	minus	G	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007995 AF228703

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC009314.4 NC_000008.9	AC087624.3 AF215848.3

Population Diversity

There is no frequency data.

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

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Revised: May 25, 2006 1:38 PM .