Reference SNP(refSNP) Cluster Report: rs12937519

Reference SNP(refSNP) Cluster Report: rs12937519

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	121/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NG_000018.2:g.86025C>T
NM_004138.2:c.809C>T
NP_004129.2:p.Ala270Val
NT_010755.15:g.3227459G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss40842968 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12937519 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
ss21378771	SSAHASNP\|WGSA-200403-chr17.chr17.NT_010755.14_3225661	fwd/T	A/G	ttgaccgtgcgtctcagctcgatgatctcc	cctggtaggactgcagctgctccgagctgg	03/19/04	03/19/04	121	Genomic	unknown
ss40842968	ABI\|hCV25473527	fwd/T	A/G	ttgaccgtgcgtctcagctcgatgatctcc	cctggtaggactgcagctgctccgagctgg	07/17/05	07/17/05	126	Genomic	unknown
ss48411821	APPLERA_GI\|hCG1771507_3_25_341003000000008_2	fwd/T	A/G	ttgaccgtgcgtctcagctcgatgatctcc	cctggtaggactgcagctgctccgagctgg	09/28/05	11/03/06	126	Genomic	unknown
ss96593899	HUMANGENOME_JCVI\|1103645324300	fwd/T	A/G	ttgaccgtgcgtctcagctcgatgatctcc	cctggtaggactgcagctgctccgagctgg	03/26/08	03/26/08	130	Genomic	unknown
ss103345843	BGI\|BGI_rs12937519	fwd/T	A/G	ttgaccgtgcgtctcagctcgatgatctcc	cctggtaggactgcagctgctccgagctgg	06/06/08	06/18/09	130	Genomic	unknown

Fasta sequence (Legend)

 ACAGCTGGGA GCTGTAGCGG GCCTCGCTCT CTGTCAGCGT GTTTTCCAGA GAGTCTCGCT
 GTGGTGGGGA AGATTGAGAG TGTCAGAGAG CTGCTCCTTA TAAGGTTCCT CCATGGGGTT
 CCAAAGAACT CACAAGCTCC AAGAGCTAAG GAGAGTGTGT GGCCCCAAGG GCATCCCCAA
 GACTCTGCCT CCCAAGTTCC CATCGCTCAC CAGCAGGTCT GAACAATACA CACCAGGTTG
 TGCTGGGCCT GCAGCTCGAT CTCCAGGGCA TTGACCGTGC GTCTCAGCTC GATGATCTCC
 R
 CCTGGTAGGA CTGCAGCTGC TCCGAGCTGG ATACCACCTG CTTGTTCAGC TCCTCGGTCT
 GAAACACCCA AGGGGAGAAA GGATCAGACC CTGCCTCCGG GGCCCTGGGG GGCCTCGGGT
 CCTGAGTGGC CACGTGCTTA GATGCCCACC TGCGTGGCGA ACCATTGCTC CACTTCCCTG
 CGGTTGGTTT CCACCAGGGC CTCATACTGA CTCCTGGTCT CATTCAGGAC CTGGTTCAGG
 TCCACAGTGG GAGCAGCGTC CACCTCCACG TTGAGGCGGT CTCCAAGCTG GCAGCGCAGG

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NT_010755 ABBA01031811

dbSNP Blast Analysis

UniGene Cluster ID
512579

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss48411821	AGI_ASP population	multiple	78	IG	0.077	0.333	0.590	0.584	0.244	0.756

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.369+/-0.220	40	39	0	0

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 .