Reference SNP(refSNP) Cluster Report: rs7029148

Reference SNP(refSNP) Cluster Report: rs7029148

refSNP ID: rs7029148
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	116/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NM_021951.2:c.538+7948A>G
NT_008413.17:g.845091A>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss10509529 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7029148 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
ss10509529	BCM_SSAHASNP\|chr9.NT_008413.15_845091	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	06/29/03	10/25/06	116	Genomic	unknown
ss17282844	CSHL-HAPMAP\|CSHL-HuAA-200402.chr9.NT_008413.16_845091	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	02/17/04	03/04/04	120	Genomic	unknown
ss43420129	ABI\|hCV29341939	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	07/18/05	07/18/05	126	Genomic	unknown
ss66624714	ILLUMINA\|HumanHap300v1.1_rs7029148	fwd/B	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	11/09/06	11/09/06	127	Genomic	unknown
ss67531857	ILLUMINA\|HumanHap550v1.1_rs7029148	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	11/14/06	11/14/06	127	Genomic	unknown
ss67901335	ILLUMINA\|HumanHap650Yv1.0_rs7029148	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	11/14/06	11/14/06	127	Genomic	unknown
ss69278185	PERLEGEN\|PGP04296068	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	01/30/07	03/31/08	127	Genomic	unknown
ss70903628	ILLUMINA\|HumanHap550v3.0__rs7029148	rev/B	C/T	agataaacaaaattgagacactatctaaaa	aggctatcaaagccatcagtccctggccgg	04/20/07	03/31/08	130	Genomic	unknown
ss71499529	ILLUMINA\|HumanHap650Yv3.0_rs7029148	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	04/23/07	04/23/07	127	Genomic	unknown
ss75467731	ILLUMINA\|ILMN_Human_1M_rs7029148	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	08/28/07	08/29/07	129	Genomic	unknown
ss79243146	ILLUMINA\|HumanHap300v2.0_rs7029148	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	04/18/07	11/18/07	130	Genomic	unknown
ss84601237	KRIBB_YJKIM\|KHS755174	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	12/04/07	12/07/07	130	Genomic	unknown
ss93993051	BCMHGSC_JDW\|JWB-2544291	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	02/26/08	03/05/08	129	Genomic	unknown
ss108511429	1000GENOMES\|CEU.trio.12.15.2008_2111007_chr9_845091	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	12/15/08	12/16/08	130	Genomic	unknown
ss113992493	1000GENOMES\|NA19240_2008_12_16_1909679_chr9_845091	fwd/T	A/G	ccggccagggactgatggctttgatagcct	ttttagatagtgtctcaattttgtttatct	12/18/08	12/18/08	130	Genomic	unknown

Fasta sequence (Legend)

 TTGAAAGAGT CTGGCCACTT AAGTGAAATG AGATCCGTTT GATTTTAGAC AGCTTTCAAT
 TAAAGCTAGA ATAGGAAATG ATATTAGATT AAGAAAAAGC TTTTCAGATA AAAACATTCC
 CAAATTTTAC TTTCAAATTA AACAAATTTT CAGAGTTTCT AGCAAAACAA AACTCCtttt
 tttttttgaa acagagtctc actctgtcac ccaggctgga gtgcagtggc ataatctcgg
 ctcactgcaa gctccgcctc ctgggttcac gccattctcc tgcctcagcc tcccgagtag
 ctgggactac aggcgcccgc cgccacgcca ggctaatttt ttttgtattt ttagtagaga
 cggggtttca ccatgttagc caggatggtc tcaatctcct gacctcgtga tccgcccgcc
 tcagcctccc aaagtgctgc gattacaggg gtgagccacc atgcccggcc AGGGACTGAT
 GGCTTTGATA GCCT
 R
 TTTTAGATAG TGTCTCAATT TTGTTTATCT CAGGGATAGT CTTTGCTTAT ATGTCAAGTA
 TAGCAGTTTA ATTGGTCAGA TAGAAACTTT CTGTGGATAG TATTTTAATA AAGCAATTAT
 GAAAACAAAG TACGTAGGAA GTAACCTACT TGTCTACCTT TGACTAGAAA GGAAATTTAG
 AAAACATCTA GAGCCAGGAA

GeneView

GeneView via analysis of contig annotation: DMRT1 doublesex and mab-3 related transcription factor 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_008413->NM_021951

function

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


reference	NT_008413->NM_021951->NP_068770	845091	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7029148 maps exactly once on NCBI human chromosome 9

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
9	NW_924062.1	657512	772993	plus	A	alt_assembly_1	Celera	Celera	view	494
9	NW_001839149.2	35060662	807559	minus	T	alt_assembly_8	HuRef	HuRef	view	494
9	NT_008413.17	845091	845091	plus	A	ref_assembly	reference	reference	view	494

NCBI Resource Links

Submitter-Referenced
GenBank
NT_008413

dbSNP Blast Analysis
GenBank HTGS Finished:
AL136365.9

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss10509529	HapMap-CEU	European	120	IG	0.217	0.500	0.283	1.000	0.467	0.533

	HapMap-HCB	Asian	90	IG	0.578	0.289	0.133	0.100	0.722	0.278

	HapMap-JPT	Asian	88	IG	0.591	0.318	0.091	0.317	0.750	0.250

	HapMap-YRI	Sub-Saharan African	120	IG	0.333	0.483	0.183	1.000	0.575	0.425

ss69278185	HapMap-CEU	European	120	GF	0.217	0.500	0.283		0.467	0.533

	HapMap-HCB	Asian	90	GF	0.578	0.289	0.133		0.722	0.278

	HapMap-JPT	Asian	90	GF	0.578	0.333	0.089		0.744	0.256

	HapMap-YRI	Sub-Saharan African	120	GF	0.333	0.483	0.183		0.575	0.425

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.475+/-0.109	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

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .