Reference SNP(refSNP) Cluster Report: rs10995574

Reference SNP(refSNP) Cluster Report: rs10995574

refSNP ID: rs10995574
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:	C
Clinical Association:	unknown

HGVS Names
NM_001098512.1:c.267-68465C>T
NM_006258.2:c.311+9798C>T
NT_008583.16:g.1395614C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss15464039 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10995574 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
ss15464039	SC_SNP\|NT_008583.16_1395614		fwd/B	C/T	tcaaaaaacagatctaatgttattgacctt	taatatttagtgtcattttctcacttttag	11/14/03	11/22/03	120	Genomic			unknown
ss18868576	SC_SNP\|SC-CHR9-12_NA07340-200402.chr10.NT_008583.16_1395614		fwd/B	C/T	tcaaaaaacagatctaatgttattgacctt	taatatttagtgtcattttctcacttttag	02/20/04	03/04/04	120	Genomic			unknown

Fasta sequence (Legend)

 AAAGATCATA AATGTAAATT AAACTTCAGA TTTGCTTTAA GATAGATGTA ATTTAATTCA
 CTTCTACATA GAGGTGGAGA GAAAATAATG TAAGCTATTT ACTTATGCTT TGGCTGGGCA
 TAAAACATGA GTAAATACCT TACATTATTT TTATGTGATT ATAATATGCA TCAAAAAACA
 GATCTAATGT TATTGACCTT
 Y
 TAATATTTAG TGTCATTTTC TCACTTTTAG ACCCTACCTA CTGTTAAGAA GTAACATTGT
 ACTTCTTTGA ACATGAGGTA ATTATAGTAT CATCCAGTCA GTTTAATTTG GTTAATTGGA
 TTGAATGTCA ATGATGACAA ATACACTCTA GTTAAGCAGA ATACTTGGAC TATTTTCAGA
 AACAATTGTA TTATGGTAAT

GeneView

GeneView via analysis of contig annotation: PRKG1 protein kinase, cGMP-dependent, type I

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_008583->NM_001098512

function

reference

NT_008583->NM_006258

function

HuRef

NW_001837985->NM_001098512

function

HuRef

NW_001837985->NM_006258

function

Celera

NW_924796->NM_001098512

function

Celera

NW_924796->NM_006258

function

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


reference	NT_008583->NM_001098512->NP_001091982	1395614	forward	intron

reference	NT_008583->NM_006258->NP_006249	1395614	forward	intron

HuRef	NW_001837985->NM_001098512->NP_001091982	939402	forward	intron

HuRef	NW_001837985->NM_006258->NP_006249	939402	forward	intron

Celera	NW_924796->NM_001098512->NP_001091982	301436	forward	intron

Celera	NW_924796->NM_006258->NP_006249	301436	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs10995574 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_924796.1	301436	46107193	plus	C	alt_assembly_1	Celera	Celera	view	200
10	NW_001837985.1	939402	46822863	plus	C	alt_assembly_8	HuRef	HuRef	view	200
10	NT_008583.16	1395614	52514465	plus	C	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_008583

dbSNP Blast Analysis
GenBank HTGS Finished:
AL731537.8 NC_000010.9

Population Diversity

	Sample Ascertainment				Genotype Detail		Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	HWP	C
ss15464039	HapMap-CEU	European	118	IG	1.000		1.000

	HapMap-HCB	Asian	88	IG	1.000		1.000

	HapMap-JPT	Asian	90	IG	1.000		1.000

	HapMap-YRI	Sub-Saharan African	116	IG	1.000		1.000

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