Reference SNP(refSNP) Cluster Report: rs13331975

Reference SNP(refSNP) Cluster Report: rs13331975

refSNP ID: rs13331975
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	121/129
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_001042610.1:c.319+1005G>A
NM_024043.2:c.379+1005G>A
NT_010542.15:g.1634804C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss22993253 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13331975 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
ss22993253	BCM_SSAHASNP\|BCM_HTWD_SNPS_200403.chr16.NT_010542.14_1630041		fwd/B	C/T	cttgaaaagtaaagttttaagcagctgtga	ggggaagttgcttcaagttgggcagatagc	03/22/04	03/22/04	121	Genomic			unknown
ss69355454	PERLEGEN\|PGP13351324		fwd/B	C/T	cttgaaaagtaaagttttaagcagctgtga	ggggaagttgcttcaagttgggcagatagc	01/30/07	01/30/07	127	Genomic			unknown

Fasta sequence (Legend)

 CAGGCCAATG GCAACGCTCC CGTGGGAATC AGAGGAAGTT AAGTGAGCTG AGGAGGGGCC
 CGGGCTGGTG ACCACCCCCA CCTTTCGTTC TTGGCCCATT TTATGATGAA AATTCACATT
 CATTAAATTC TGCTTTTGAG GGGACAGTGG CTTTAGCCGT CTGTTGCTCA CTTGAAAAGT
 AAAGTTTTAA GCAGCTGTGA
 Y
 GGGGAAGTTG CTTCAAGTTG GGCAGATAGC AGCGTGGTGA AATGAAGTGC TGAGGGATTC
 TTGCTAAAAC ACACGCACAC CTCCCAGGAC TTCCCAAGGG GCCTCAGCCC ACCACCCACA
 CCTCCCAGGA CGTCCCAAGG GGCCTCACCC CCCAAACACA CCTCCCAGGA CTTCCCAAGG
 GGCCTCACCC CCCAAACACA

GeneView

GeneView via analysis of contig annotation: DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1

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_010542->NM_001042610

function

reference

NT_010542->NM_024043

function

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


reference	NT_010542->NM_001042610->NP_001036075	1634804	reverse	intron

reference	NT_010542->NM_024043->NP_076948	1634804	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs13331975 maps exactly once on NCBI human chromosome 16

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
16	NW_926561.1	1706994	75139004	plus	C	alt_assembly_1	Celera	Celera	view	200
16	NW_001838336.2	100137	75766445	minus	G	alt_assembly_8	HuRef	HuRef	view	200
16	NT_010542.15	1634804	88601688	plus	C	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_010542

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	HWP	C	T
ss22993253	HapMap-CEU	European	120	IG	0.983	0.017	1.000	0.992	0.008

	HapMap-HCB	Asian	90	IG	1.000			1.000

	HapMap-JPT	Asian	88	IG	1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	IG	1.000			1.000

ss69355454	HapMap-CEU	European	120	GF	0.983	0.017		0.992	0.008

	HapMap-HCB	Asian	90	GF	1.000			1.000

	HapMap-JPT	Asian	90	GF	1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF	1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.005+/-0.049	270	210	270	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 .