Reference SNP(refSNP) Cluster Report: rs4324

Reference SNP(refSNP) Cluster Report: rs4324

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	36/130
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_000789.2:c.2058+438G>A
NM_152830.1:c.336+438G>A
NT_010783.14:g.20215182A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss10852606 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4324 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
ss4713	DEBNICK\|dcp1-11376	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	05/03/99	12/23/03	36	Genomic	unknown
ss10852606	BCM_SSAHASNP\|chr17.NT_010783.13_16855103	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	06/30/03	03/31/08	116	Genomic	unknown
ss16730374	CSHL-HAPMAP\|CSHL-HuAA-200402.chr17.NT_010783.14_20215182	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	02/17/04	03/04/04	120	Genomic	unknown
ss23142633	PARC\|ACE-011092	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	05/07/04	05/16/04	126	Genomic	unknown
ss76696112	AFFY\|AFFY_6_1M_SNP_A-8557538	rev/B	C/T	attgagtaaatgttca	caaaatctgaaattga	08/28/07	08/30/07	129	Genomic	unknown
ss80175327	HGSV\|Cor18507_SNV_20070510.chr17_58916903	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	11/23/07	11/24/07	130	Genomic	unknown
ss84149295	PHARMGKB_PARC\|PS206642_PA151794545_11092	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	12/06/07	12/10/07	130	Genomic	unknown
ss90634005	BCMHGSC_JDW\|JWB-1038645	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	02/26/08	02/29/08	129	Genomic	unknown
ss104807799	KRIBB_YJKIM\|KHS1200135	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	07/10/08	07/10/08	130	Genomic	unknown
ss109855879	1000GENOMES\|CEU.trio.12.15.2008_3421255_chr17_58916903	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	12/15/08	12/16/08	130	Genomic	unknown
ss113710594	1000GENOMES\|NA19240_2008_12_16_3080146_chr17_58916903	fwd/T	A/G	aaaaaaaaaaaaactcaatttcagattttg	tgaacatttactcaatgcctgagcaattct	12/18/08	12/18/08	130	Genomic	unknown

Fasta sequence (Legend)

 GCCGAGGCCA ACTGGAACTA CAACACCAAC ATCACCACAG AGACCAGCAA GATTCTGGTG
 GGAGCCACCT CCCCACCCCC AAACCTGAGC ATGTGCATAC ACACAGAGAT GCTGTCCCGC
 TCACCACACA GTGGGGCTGC CACCACATTT TAAATTGAAT ATTTAAAACA ATACTCAATT
 TCGggccggg cgcggtggct cacgcctgta atcccagcac tttgggaggg ggaggcgggc
 ggatcacgag gtcagatcaa gaccatcctg gctaacacgg tgaaacccca tctctagtaa
 aaatacaaaa attagccggg tgtggtggcg agcacctgta gtcccagtac tcaggaggct
 gaggcaggag aatggcatga acccgggagg cagagcttgc agtgagccga gatggcacca
 ctgcactcca gcctgggcga cagagcgaga ctccatcaaa aaaaaaaaaa aaaaaaaCTC
 AATTTCAGAT TTTG
 R
 TGAACATTTA CTCAATGCCT GAGCAATTCT TCTTTCCTTA AAAATCAGTc tctgggaggc
 ctaggtggga ggatcacttg aagccaggag ttggagacta gcctgggcaa catagcaaga
 tcccatctct attcaaacaa acaaataaac aaaaaTCAAT CTCTAGTAAC AGAATAATTT
 GTACATAAAT AAGTGGTGCT CAAGTCGTTT TTTAAAAGAT TGAAAGCCTC TGTTTGTCTC
 CTCTACAAAA GGGGCTACAC TTCCTCTTTA CCCTCATTCC CTGCCTATTT GGCTGAGCAC
 AAATTA

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NT_010783

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss10852606	HapMap-CEU	European	120	IG	0.300	0.433	0.267		0.517	0.483

	HapMap-HCB	Asian	90	IG	0.533	0.444	0.022		0.756	0.244

	HapMap-JPT	Asian	90	IG	0.289	0.556	0.156		0.567	0.433

ss23142633	PARC-EUROPEAN-PANEL	European	46	AF					0.630	0.370

ss84149295	PA151794546		94	AF					0.617	0.383