Reference SNP(refSNP) Cluster Report: rs12263706

Reference SNP(refSNP) Cluster Report: rs12263706

refSNP ID: rs12263706
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	120/129
Map to Genome Build:	36.3

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

HGVS Names
NM_001353.5:c.571-1624T>C
NT_077567.3:g.4952769T>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss18660696 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12263706 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
ss18660696	SC_SNP\|SC-CHR9-12_NA17119-200402.chr10.NT_077567.3_4952769	fwd/B	C/T	tttaaaaacttggttaagctccaacaatga	agactggattaagaaaatgtggcacatata	02/20/04	03/04/04	120	Genomic	unknown
ss43532910	ABI\|hCV31468149	fwd/B	C/T	tttaaaaacttggttaagctccaacaatga	agactggattaagaaaatgtggcacatata	07/18/05	07/18/05	126	Genomic	unknown
ss88075820	BCMHGSC_JDW\|JWB-0227367	fwd/B	C/T	tttaaaaacttggttaagctccaacaatga	agactggattaagaaaatgtggcacatata	02/26/08	02/27/08	129	Genomic	unknown

Fasta sequence (Legend)

 AGTTAACTTG TTTTTCCCAG TTGTTGAAGG TTTCTGTAAA TTAGAAGTTA GATGAGAGTG
 TTTTATTACA TTGACTTAAA CCTTTGGGGC AAGAAAATAT TTTTATCATG CTGTGTTTTT
 CAAATTGCAC CACACTAGAC TGCATACAAT CACAGAATGC CCCACTAGTG GTGAAGGTAG
 TTTTAAAAAC TTGGTTAAGC tccaacaatg a
 Y
 agactggatt aagaaaatgt ggcacatata caccatggaa tactatgcag ccataaaaaa
 tgatgagttc atatcctttg tagggacatg gatgaaactg gaaatcatca ttgtcagtaa
 actatcgcaa gaacaaaaaa ccaaacaccg catattctca ctcataggtg ggaattgaac
 aatgagatca catggataca ggaaggggaa tatcacactc tggggactgt tgtggggtgg
 ggggaggggg gagggatagc actgggagat atacctaatg ctagatgacg agttagtagg
 tgcagcgtac caacatggca catgtataca tatgtaacta acctgcacaa tgtgcacatg
 taccctcgaa cttaaagtat aataaaaaaa aaaaaaCTTG GTTAAGCTAA CAGTGGTCAG
 ATCTGTTGTT TTTAACTCAT GTTTTCTCTT TAACAATTAC TAGTAATCTG CTGGGGGATA
 ATTCTCAACA GAAGAAGTCA

GeneView

GeneView via analysis of contig annotation: AKR1C1 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: LOC648517 similar to Aldo-keto reductase family 1 member C1 (20-alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase) (High-affinity hepatic bile acid-binding protein) (HBAB) (Chlordecone reductase homolog HAKRC...

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_077567->NM_001353

function

Celera

NW_921365->XM_001724119

function

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


reference	NT_077567->NM_001353->NP_001344	4952769	forward	intron

Celera	NW_921365->XM_001724119->XP_001724171	7048	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs12263706 maps exactly once on NCBI human chromosome 10

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
10	NW_001837930.2	370976	4972623	plus	C	alt_assembly_8	HuRef	HuRef	view	211
10	NT_077567.3	4952769	5002769	plus	T	ref_assembly	reference	reference	view	211
Un	NW_921365.1	7048	unplaced	plus	T	alt_assembly_1	Celera	Celera	view	211

NCBI Resource Links

Submitter-Referenced
GenBank
NT_077567

dbSNP Blast Analysis
GenBank HTGS Finished:
AL713867.6

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

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Revised: May 25, 2006 1:38 PM .