Reference SNP(refSNP) Cluster Report: rs139184

Reference SNP(refSNP) Cluster Report: rs139184

refSNP ID: rs139184
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	78/129
Map to Genome Build:	36.3

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

HGVS Names
NM_022141.4:c.814-138C>G
NT_011521.4:g.705099C>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss8019085 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs139184 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
ss147626	SC\|dJ671O14_60313	fwd/T	C/G	tgctggatgaccacggattgtggtcgtggt	agggatgcccaccttggatgggagtttagg	06/12/00	10/10/03	78	Genomic	unknown
ss3208211	YUSUKE\|IMS-JST068295	fwd/T	C/G	tgctggatgaccacggattgtggtcgtggt	agggatgcccaccttggatgggagtttagg	09/05/01	10/10/03	100	Genomic	unknown
ss3880828	SC_JCM\|AL109803.2_82741	rev/B	C/G	cctaaactcccatccaaggtgggcatccct	accacgaccacaatccgtggtcatccagca	09/25/01	10/10/03	100	Genomic	unknown
ss8019085	SC_SNP\|NT_011521.1_684560	fwd/T	C/G	tgctggatgaccacggattgtggtcgtggt	agggatgcccaccttggatgggagtttagg	04/15/03	10/10/03	117	Genomic	unknown
ss14731848	BCM_SSAHASNP\|chr22.NT_011521.2_697601	fwd/T	C/G	tgctggatgaccacggattgtggtcgtggt	agggatgcccaccttggatgggagtttagg	11/10/03	11/22/03	119	Genomic	unknown
ss71646423	SI_EXO\|NT_011521.4_705099	fwd/	C/G	tgctggatgaccacggattgtggtcgtggt	agggatgcccaccttggatgggagtttagg	05/07/07	05/07/07	127	Genomic	unknown
ss77494450	HGSV\|Cor12156_SNV_20070510.chr22_42926400	fwd/	C/G	tgctggatgaccacggattgtggtcgtggt	agggatgcccaccttggatgggagtttagg	10/09/07	10/13/07	129	Genomic	unknown
ss91936499	BCMHGSC_JDW\|JWB-1532792	fwd/	C/G	tgctggatgaccacggattgtggtcgtggt	agggatgcccaccttggatgggagtttagg	02/26/08	03/02/08	129	Genomic	unknown

Fasta sequence (Legend)

 CCTGGTTTGA GCGCTTTCTG TCTCGTGAGC TCCAGTGAGC CCCTTGGCTC CTCTGAGCCT
 TGATTTCCTC ACTGTGCTTT GCCCTGGGAA ACAGCTGTTC TCAAAGGTGC TCTGCCACCC
 CAGGCCCTTG CTCCTTTCCC TGGGTAGTTC TCCCTGCCTG GCGGGACTCA CCACCAGGCT
 TCACCTCCAC CAGGAAGCCT TCCCTGATCC CTATTGGGTA TCCTCCTTGG CGATTGCCTT
 TTTCACGGGC AGTGGCCCCT GGACGCAAGC GTGTGCCCAG TGTGGTATAG CACCTGCTCA
 GAGTGGGGCC TGTGAGTGGC TGAGGAATGA GACATGGATT GCTTGTGTGA CAGAGTGAGC
 TGTAGGGaga tgctggatga ccacggattg tggtcgtggt
 S
 agggatgccc accttggatg ggagtttagg ctCATGATGG ACATCACAGA CAACAGGAAG
 GGCTTGGCAC TTGGGACCCA AGGCCTGGCC TGGGGCTGCT GCTTGTGCCC ACATCTGATA
 GGGCCTTGTC ATCATAGCTG CACAACGTCA CCCTGGCGCT GGAGCTGCTG AAGGACGAGG
 GCCTGCTCAG CTGCCCTGTC AGCCCTGAAG GTGAGTGCAA GGCAGATGCC CACACGGTGG
 CCAGCCCTGG GTGGCAGCCT TGTGCGAGAG CCACAGAACA GGGTGCAGGG CATTGGGGGA
 TGAGCACGCA TTGGCAGAGT CCTCTTGCCT GGCAGGGGTG GAGAATGGGC GCTTGCCAAG
 GTTTCTTGGG AGGGGGCACT GCAGCCCCAG GGGAAGAGGT

GeneView

GeneView via analysis of contig annotation: PARVG parvin, gamma

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_011521->NM_022141

function

HuRef

NW_001838749->NM_022141

function

Celera

NW_927650->NM_022141

function

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


reference	NT_011521->NM_022141->NP_071424	705099	forward	intron

HuRef	NW_001838749->NM_022141->NP_071424	713153	forward	intron

Celera	NW_927650->NM_022141->NP_071424	1695088	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs139184 maps exactly once on NCBI human chromosome 22

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
22	NW_001838749.1	713153	27553962	plus	C	alt_assembly_8	HuRef	HuRef	view	400
22	NW_927650.1	1695088	28515455	plus	C	alt_assembly_1	Celera	Celera	view	400
22	NT_011521.4	705099	42932832	plus	C	ref_assembly	reference	reference	view	400

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011521.4 AL031595

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AL031595.4 NC_000022.9	AL109803.2 AL671435.3

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

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .