Reference SNP(refSNP) Cluster Report: rs8075634

Reference SNP(refSNP) Cluster Report: rs8075634

refSNP ID: rs8075634
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/T
Ancestral Allele:	T
Clinical Association:	unknown

HGVS Names
NM_007010.2:c.1650-415T>A
NM_152300.2:c.1326-415T>A
NT_078100.1:g.1252996A>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss12404115 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8075634 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
ss12404115	WI_SSAHASNP\|chr17.NT_078100.1_1252996	fwd/T	A/T	gctaccacgctcagccacaaaattcatttt	caaaaccatttactggtttaaggtggggct	07/04/03	10/10/03	116	Genomic	unknown
ss16739763	CSHL-HAPMAP\|CSHL-HuAA-200402.chr17.NT_078100.1_1252996	fwd/T	A/T	gctaccacgctcagccacaaaattcatttt	caaaaccatttactggtttaaggtggggct	02/17/04	03/04/04	120	Genomic	unknown
ss21386482	SSAHASNP\|WGSA-200403-chr17.chr17.NT_078100.1_1252996	fwd/T	A/T	gctaccacgctcagccacaaaattcatttt	caaaaccatttactggtttaaggtggggct	03/19/04	03/19/04	121	Genomic	unknown
ss90580891	BCMHGSC_JDW\|JWB-1018627	fwd/	A/T	gctaccacgctcagccacaaaattcatttt	caaaaccatttactggtttaaggtggggct	02/26/08	02/29/08	129	Genomic	unknown

Fasta sequence (Legend)

 TATCCTTAGC TTTTTCTAAG AAACATTTTG GAGTTGTACT AATGCTCTCC CTTTCCAATG
 GTTTCTTAAT CATCTTTTTC TTTTGTTTGC TGAAAGTTAC AAAGTAAAAA AGGAAAAGAA
 TTAAGTGCAA CTTCAATTAG AAGAGTTAAA GCTAAAATTA GTTTTGATCC TTGATCACAA
 AATTCAtttt ttttttttcc tttgagacgg agttttgctc ttgttgccca ggctggagtg
 caatggcaca atctcggctc actgcaacct ctgcctcctg ggttcaggcg attctcctgc
 ctcagcttcc caagtagctg tgattacaga catacaccac cacgcccggc taaatttttt
 tttgtatttt aagtagagat ggggtttctc catgttggtc aggctggtct caaactcccg
 acctcaggtc ccgcccgcct cggcctccca aagtgctggg attacaggcg tgagctacca
 cgctcagccA CAAAATTCAT TTT
 W
 CAAAACCATT TACTGGTTTA AGGTGGGGCT GTAACTACTT TAATAAACGA GATCGCCTAA
 TAGGATTTAC AGAGCTAACT CAAAGGGATG ATAAATTCAA TCAACCTTTT AGAAAGCTAC
 TGACTGTGAT TAAAATATGT CCTGTGCCAA CCTTATATCC TGTGTCAACA AGCATCAGAG
 TTTGATTTTG ATCAATTAAG

GeneView

GeneView via analysis of contig annotation: DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52

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_078100->NM_007010

function

reference

NT_078100->NM_152300

function

HuRef

NW_001838434->NM_007010

function

HuRef

NW_001838434->NM_152300

function

Celera

NW_926817->NM_007010

function

Celera

NW_926817->NM_152300

function

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


reference	NT_078100->NM_007010->NP_008941	1252996	reverse	intron

reference	NT_078100->NM_152300->NP_689513	1252996	reverse	intron

HuRef	NW_001838434->NM_007010->NP_008941	286288	forward	intron

HuRef	NW_001838434->NM_152300->NP_689513	286288	forward	intron

Celera	NW_926817->NM_007010->NP_008941	1169853	reverse	intron

Celera	NW_926817->NM_152300->NP_689513	1169853	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs8075634 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_001838434.2	286288	31916264	minus	A	alt_assembly_8	HuRef	HuRef	view	503
17	NW_926817.1	1169853	32801884	plus	T	alt_assembly_1	Celera	Celera	view	503
17	NT_078100.1	1252996	33052957	plus	A	ref_assembly	reference	reference	view	503

NCBI Resource Links

Submitter-Referenced
GenBank
NT_078100

dbSNP Blast Analysis
GenBank HTGS Finished:
AC091199.6 NC_000017.9

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
	UNKNOWN	UNKNOWN	UNKNOWN

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Revised: May 25, 2006 1:38 PM .