Reference SNP(refSNP) Cluster Report: rs36085723

Reference SNP(refSNP) Cluster Report: rs36085723

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/137
Map to Genome Build:	37.4
Validation Status:

Allele
Variation Class:	SNV: single nucleotide variation
RefSNP Alleles:	A/G
Allele Origin:
Ancestral Allele:	G
Clinical Channel:	unknown
Clinical Significance:	NA
MAF/MinorAlleleCount:	A=0.001/1
MAF Source:	1000 Genomes

HGVS Names
NC_000017.10:g.37884286G>A
NG_007503.1:g.44894G>A
NM_001005862.1:c.3667G>A
NM_004448.2:c.3757G>A
NP_001005862.1:p.Val1223Met
NP_004439.2:p.Val1253Met
NT_010783.15:g.3158438G>A

Links

, Linkout

SNP Details are organized in the following sections:

Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence viewer)

GeneView

GeneView via analysis of contig annotation:

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

Primary Assembly Mapping
Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

RefSeqGene Mapping
RefSeqGene	Gene (ID)	SNP to RefSeqGene	Position	Allele

Gene Model(s)
Function	mRNA				Protein
Function	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

Submitter records for this RefSNP Cluster

The submission ss489109113 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs36085723 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
ss49847953	RIKENSNPRC\|ssj0009170		fwd/T	A/G	gcagagaacccagagtacctgggtctggac	tgccagtgtgaaccagaaggccaagtccgc	12/06/05	12/06/05	126	Genomic			unknown
ss489109113	1000GENOMES\|20110521_exome_228076_chr17_37884286		fwd/T	A/G	gcagagaacccagagtacctgggtctggac	tgccagtgtgaaccagaaggccaagtccgc	02/10/12	02/13/12	137	Genomic			unknown

Fasta sequence (Legend)

 CCTTTGGGGG TGCCGTGGAG AACCCCGAGT ACTTGACACC CCAGGGAGGA GCTGCCCCTC
 AGCCCCACCC TCCTCCTGCC TTCAGCCCAG CCTTCGACAA CCTCTATTAC TGGGACCAGG
 ACCCACCAGA GCGGGGGGCT CCACCCAGCA CCTTCAAAGG GACACCTACG GCAGAGAACC
 CAGAGTACCT GGGTCTGGAC
 R
 TGCCAGTGTG AACCAGAAGG CCAAGTCCGC AGAAGCCCTG ATGTGTCCTC AGGGAGCAGG
 GAAGGCCTGA CTTCTGCTGG CATCAAGAGG TGGGAGGGCC CTCCGACCAC TTCCAGGGGA
 ACCTGCCATG CCAGGAACCT GTCCTAAGGA ACCTTCCTTC CTGCTTGAGT TCCCAGATGG
 CTGGAAGGGG TCCAGCCTCG

NCBI Resource Links

Submitter-Referenced
GenBank
NC_000017

dbSNP Blast Analysis

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
	UNKNOWN	UNKNOWN	UNKNOWN

Disclaimer Privacy statement

GeneView via analysis of contig annotation:

GeneView via analysis of contig annotation: N/A.

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

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