Reference SNP(refSNP) Cluster Report: rs34731820

Reference SNP(refSNP) Cluster Report: rs34731820

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_000275.2:c.1020C>T
NM_000275.2:c.1022T>C
NM_000275.2:c.1109T>C
NP_000266.2:p.Ile370Thr
NP_000266.2:p.Val341Ala
NT_010280.17:g.638718A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48296097 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34731820 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss48296097	SNP500CANCER\|OCA2-10		fwd/B	C/T	cccttgcagcactggcagcactggctgtga	tggygatgtaagttgtcacagtcccaatcc	08/19/05	11/03/06	126	Genomic			unknown
ss118171764	ILLUMINA-UK\|NA18507_000009905_NCBI36.1_chr15_25909324		rev/T	A/G	ggattgggactgtgacaacttacatcgcca	tcacagccagtgctgccagtgctgcaaggg	01/20/09	01/20/09	130	Genomic			99 %

Fasta sequence (Legend)

 ATCAGGGTCA TCTAATTATT TAGGAAATGC AAGCAGCTTC CCTTAGATGG CACGTTGGTG
 GTAGCTGTAT GTGTCTGTGG GGTGTCCAGG CCTGAAACAT CAAGACCCAT GACTTATCAT
 TTGAATAGAT GTGGTACACA GTGGCAGATA TAGACCCCCT CATGTCCACA CAGGCTTTCG
 TRTGTGCTAA CTCCCTCGTG CACTGGAACG CGGTAATTTC CTGTGCTTCT TTCCAGATCG
 TGCACAGAAC TCTGGCRGCC ATGCTGGGTT CCCTTGCAGC ACTGGCAGCA CTGGCTGTGA
 Y
 TGGYGATGTA AGTTGTCACA GTCCCAATCC CTGGCTTACC ACTCAGTGGG ATGTCAGCTC
 AAAGATGTTC CAGGATTCAG GCTTTCGCTG GTTTTTTCAC TATTTTATAT GCCACGTCCA
 TGTTTTTGCC CAAGAACCAT GCTAGAGGTA TGAACTAACA AGCTACAGCA TTGAAGAGTA
 CTTTTCATTA GGTTTTGTCA CACACTCACA TCCCAGTGGT GTGATTCCTC ATCGTGGTGG
 AGGAAAGGCT CCTCATGGGC ATGTTTGCCT AGGGCTGTGG AGCTGGGTTG TGATGGGGCT

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_010280

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/T	T/T	HWP	C	T
ss48296097	P1		202	AF	0.010	0.990	1.000	0.005	0.995

	CAUC1		62	AF		1.000			1.000

	AFR1		48	AF	0.042	0.958	1.000	0.021	0.979

	HISP1		44	AF		1.000			1.000

	PAC1		48	AF		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.010+/-0.070	0	0	0	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	UNKNOWN

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Revised: May 25, 2006 1:38 PM .