Reference SNP(refSNP) Cluster Report: rs163376

Reference SNP(refSNP) Cluster Report: rs163376

refSNP ID: rs163376
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	79/129
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_020652.1:c.127-922A>G
NT_010718.15:g.15206128A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss10865967 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs163376 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
ss302946	KWOK\|OVLP-000621-326991	rev/T	A/G	aaaaaatgaaatggaagtgtttaaagctac	aaatttcctctgagtacagttttagccatg	06/30/00	10/10/03	79	Genomic	97 %
ss432681	KWOK\|OVLP-000621-332123	rev/T	A/G	aaaaaatgaaatggaagtgtttaaagctac	aaatttcctctgagtacagttttagccatg	06/30/00	10/10/03	79	Genomic	99 %
ss709698	SC_JCM\|AC018989.3_52539	fwd/B	C/T	catggctaaaactgtactcagaggaaattt	gtagctttaaacacttccatttcatttttt	07/27/00	10/10/03	83	Genomic	unknown
ss927734	KWOK\|OVLP-000804-276905	fwd/B	C/T	catggctaaaactgtactcagaggaaattt	gtagctttaaacacttccatttcatttttt	09/01/00	10/10/03	86	Genomic	99 %
ss1018374	KWOK\|OVLP-000804-263694	fwd/B	C/T	catggctaaaactgtactcagaggaaattt	gtagctttaaacacttccatttcatttttt	09/02/00	10/10/03	86	Genomic	97 %
ss3546737	SC_JCM\|AC005324.1_59560	fwd/B	C/T	catggctaaaactgtactcagaggaaattt	gtagctttaaacacttccatttcatttttt	09/24/01	10/10/03	100	Genomic	unknown
ss10865967	BCM_SSAHASNP\|chr17.NT_010718.13_14447916	rev/T	A/G	aaaaaatgaaatggaagtgtttaaagctac	aaatttcctctgagtacagttttagccatg	06/30/03	10/10/03	116	Genomic	unknown
ss14302324	BCM_SSAHASNP\|chr17.NT_010718.14_14449785	rev/T	A/G	aaaaaatgaaatggaagtgtttaaagctac	aaatttcctctgagtacagttttagccatg	11/05/03	11/22/03	119	Genomic	unknown
ss19373623	CSHL-HAPMAP\|CSHL-HuDD-200402.chr17.NT_010718.14_14449785	rev/T	A/G	aaaaaatgaaatggaagtgtttaaagctac	aaatttcctctgagtacagttttagccatg	02/20/04	03/04/04	120	Genomic	unknown
ss46529986	ABI\|hCV26284328	rev/T	A/G	aaaaaatgaaatggaagtgtttaaagctac	aaatttcctctgagtacagttttagccatg	07/22/05	07/22/05	126	Genomic	unknown
ss74976330	ILLUMINA\|ILMN_Human_1M_rs163376	fwd/B	C/T	catggctaaaactgtactcagaggaaattt	gtagctttaaacacttccatttcatttttt	08/28/07	08/29/07	129	Genomic	unknown
ss90546818	BCMHGSC_JDW\|JWB-1006425	rev/T	A/G	aaaaaatgaaatggaagtgtttaaagctac	aaatttcctctgagtacagttttagccatg	02/26/08	02/29/08	129	Genomic	unknown

Fasta sequence (Legend)

 ATCTGCATTG AACATGCACC TTTAAGTAAA CCCATAGACA ACAGGAATAA TATTTCAAGG
 TTACTGAAAT AAATATGAAT CAAATGCTCT AACTGGATGG AAAACACCTA CTGTTTAAAC
 ATTCATGTAG CATTTGCAAA AAGTAACAAA GTAAATTTCA ATACATTCCA aaaatagaac
 ggaataattt ataataactg agaaaatata tcaaaatatg aaaataatga aataaaatag
 gaaaaaaAAT GCCACATGGC TAAAACTGTA CTCAGAGGAA ATTT
 Y
 GTAGCTTTAA ACACTTCCAT TTCATTTTTT TAAAATGTAA ATAAATGACC AGAGCACAAA
 AATCAAGTTA gaaCAAAAAA CAAAGGAAAA GAGAAATATT TACAATATAA AAGCAGAAAT
 TTTaaaaaga gaaaaataag acagctggaa aaatctgaat aaggtcagta ggttatagta
 ttatgccaat gtgaatgtcc tgattttgaa aaaataataa taaagcaaag taaaatataa
 atttttgcaa aatctgggtg aagcatatac aagttctttg tgctatttgc aacacttctt
 atgtctaaaa ttatctcaaa gtaaaGCTAC TATGCGGAAA ATAATCTAAG ATTTAAGAAA
 TAAGAGAATT AAGTGCTGCC GGGCACCGGG GAGGCAGGTT GGTGTACGCT GTGCGCGGCG
 GACGTCAGAG GCAGCGGGGA GCGGAGCGGG GCCGCCGGGG CCTCTCCAGG GCCGCAGCGG
 CAGCAGTTgg gcccccgccc cggccggcgg ACCGAAGAAC GCAGGAAggg ggccgggggg
 acccgccccc ggccggccgc AGCCATGAAC TCCAACG

GeneView

GeneView via analysis of contig annotation: ZNF286A zinc finger protein 286A

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: LOC731049 similar to Ubiquitin-conjugating enzyme E2S (Ubiquitin-conjugating enzyme E2-24 kDa) (Ubiquitin-protein ligase) (Ubiquitin carrier protein) (E2-EPF5)

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_010718->NM_020652

function

HuRef

NW_001838406->NM_020652

function

Celera

NW_921588->XM_001724228

function

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


reference	NT_010718->NM_020652->NP_065703	15206128	forward	intron

HuRef	NW_001838406->NM_020652->NP_065703	992185	reverse	intron

Celera	NW_921588->XM_001724228->XP_001724280	2084	reverse	5' near gene

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs163376 maps exactly once on NCBI human chromosome 17

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
17	NW_001838406.2	992185	15483787	plus	T	alt_assembly_8	HuRef	HuRef	view	284
17	NT_010718.15	15206128	15549504	minus	A	ref_assembly	reference	reference	view	284
Un	NW_921588.1	2084	unplaced	minus	A	alt_assembly_1	Celera	Celera	view	284

NCBI Resource Links

Submitter-Referenced
GenBank
NT_010718 AC018989 AC026964 AC026964.3

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC005324.1 AC018989.15 NC_000017.9	AC026964.4

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

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Revised: May 25, 2006 1:38 PM .