Reference SNP(refSNP) Cluster Report: rs9648157

Reference SNP(refSNP) Cluster Report: rs9648157

refSNP ID: rs9648157
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	119/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_017802.3:c.2431+2302T>C
NT_007819.16:g.311042T>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss42924953 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9648157 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
ss13434256	SC_SNP\|NT_007819.13_117765	fwd/B	C/T	acgcggcgtcagaaactcgcatcttcccgg	gtggccgcctcccgtcacgcggcgtcagaa	10/23/03	10/31/03	119	Genomic	unknown
ss22577517	SSAHASNP\|WGSA-200403-chr7.chr7.NT_007819.14_117812	fwd/B	C/T	acgcggcgtcagaaactcgcatcttcctgg	gtggccgcctcccgtcacgcggcgtcagaa	03/21/04	03/21/04	126	Genomic	unknown
ss42924953	ABI\|hCV31081786	fwd/B	C/T	acgcggcgtcagaaactcgcatcttcctgg	gtggccgcctcccgtcacgcggcgtcagaa	07/18/05	07/18/05	126	Genomic	unknown

Fasta sequence (Legend)

 GATGTCGGAT CTTCCTGGTG TGGCCGCCTC CCGTCGCGCA GCGTCAGAAA CTCGGATCTT
 CGTGGCGTGG CCGCCTCCCG ACACGCGGCG TCAGAAACTC GGATCTTCCT GGCGTGGCCG
 CCTCCCGTCG CGCGGCGTCA GAAACTCGGC TCTTCGTGGC GTGGCCGCCT CCCGACACGC
 GGCGTCAGAA ACTCGCATCT TCCCGGCGTG GCCGCCTCCC GTCACGCGGC GTCAGAAACT
 CGCATCTTCC CGGCGTGGCC GCCTCCCGTC ACGCGGCGTC AGAAACTCGC ATCTTCCTGG
 Y
 GTGGCCGCCT CCCGTCACGC GGCGTCAGAA ACTCGGATCT TCCCGGCGTG GCCGCGTCCC
 GTCACGCGGC GTCAGAAACT CGCATCTTCC TGGTGTGGCC GCCTCCCGTC ACGCGGCGTC
 AGAAACTCGG ATCTTCCCGG CGTGGCCGCG TCCCGTTACG CAGCGTCAGA AACTCGATAT
 TCCTGGCGTG GCCGCCTCCC GTCACGCAGC GTCAGAAACT CGATCTTCCT GGCGTGGCCG
 CCTCCCGTCA CGCAGCGTCA GAAACTCGAT CTTCCTGGCG TGGCCGCCTC CCGTCACGCA

GeneView

GeneView via analysis of contig annotation: LOC100134488 hypothetical protein LOC100134488

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: HEATR2 HEAT repeat containing 2

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

CRA_TCAGchr7v2

NT_079592->XM_001722307

function

reference

NT_007819->NM_017802

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos


CRA_TCAGchr7v2	NT_079592->XM_001722307->XP_001722359	830498	forward	825	missense	C	Ala [A]	2	149
					contig reference	T	Val [V]	2	149

reference	NT_007819->NM_017802->NP_060272	311042	forward		intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs9648157 maps exactly once on NCBI human chromosome 7

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
7	NW_001838998.1	542783	740538	plus	T	alt_assembly_8	HuRef	HuRef	view	300
7	NT_007819.16	311042	788609	plus	T	ref_assembly	reference	reference	view	300
7	NW_923206.1	733278	790881	plus	T	alt_assembly_1	Celera	Celera	view	300
7	NT_079592.2	830498	880498	plus	T	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007819

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank mRNA:
XM_001125899.1	AK127690.1

UniGene Cluster ID
521328

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 .