Reference SNP(refSNP) Cluster Report: rs10426392

Reference SNP(refSNP) Cluster Report: rs10426392

refSNP ID: rs10426392
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:	C
Clinical Association:	unknown

HGVS Names
NM_002819.3:c.1464-98C>T
NM_031990.2:c.1443-98C>T
NM_031991.2:c.1386-98C>T
NM_175847.1:c.384-98C>T
NT_011255.14:g.750445C>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss69375539 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10426392 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
ss14728983	BCM_SSAHASNP\|chr19.NT_011255.14_750445	fwd/B	C/T	ctgggctcctaaaaggccctacgccttccc	ggctactctgaaaactagtctggggaaagc	11/10/03	11/22/03	119	Genomic	unknown
ss69375539	SI_EXO\|NT_011255.14_750445	fwd/B	C/T	ctgggctcctaaaaggccctacgccttccc	ggctactctgaaaactagtctggggaaagc	04/12/07	04/12/07	127	Genomic	unknown
ss83675124	HGSV\|Cor19240_SNV_20070510.chr19_761445	fwd/B	C/T	ctgggctcctaaaaggccctacgccttccc	ggctactctgaaaactagtctggggaaagc	11/30/07	12/05/07	130	Genomic	unknown
ss85519630	HGSV\|Cor18517_SNV_20070510.chr19_761445	fwd/B	C/T	ctgggctcctaaaaggccctacgccttccc	ggctactctgaaaactagtctggggaaagc	12/06/07	12/09/07	130	Genomic	unknown
ss90878451	BCMHGSC_JDW\|JWB-1134832	fwd/B	C/T	ctgggctcctaaaaggccctacgccttccc	ggctactctgaaaactagtctggggaaagc	02/26/08	03/01/08	129	Genomic	unknown

Fasta sequence (Legend)

 GCCTATCATC CCAGCACTTT AGGAGGCCGA GGCAGGCAGA TCACCTGAGG TCAGGAGTTC
 AAGACCAACC TGGCCAACCT GGTGAAACCC CGTCTCTACT AAAAATAAAA AAATTAGCCT
 GGCATGGTGT TGCGTGCCTG TAATCCCAGC TACTTGGGAG ACTGAGGCAG GAGAATCACT
 TGAACCTGCA GGCGGAGGTT GTGGTGAGCT GAGATCACGC CACTGTGCTC CCGCCTGGGC
 GACAGAGCAA GATTCCATCT GGAAAAAAAA AAGTGGAGGA GCGTGGTACT CTGTTTCTGC
 AAACTTGTAG ATGCCTGGTT TCGTTAGAAG CTGCTTCAGA CCATTGTGGA CATGATTTGA
 TACCCCATTT CTGGGCTCCT AAAAGGCCCT ACGCCTTCCC
 Y
 GGCTACTCTG AAAACTAGTC TGGGGAAAGC CTCGCGGACC TGACTGGGCG CCCCCACCCC
 CACGCGGCCC CAGGCTCACG CCTTTCTCCT CCCACAGGCC CTCAGTCTCC GAGGAGGATC
 TCAAGGTCCT GTTTTCCAGC AATGGGGGCG TCGTCAAAGG ATTCAAGTTC TTCCAGTGAG
 TATGAGGCGG GCTGTCCCTG GCTCTCCCCA GGCTGCCCTG CGGCCGGCCC TGACCCCCTG
 TCTTGCAGGA AGGACCGCAA GATGGCACTG ATCCAGATGG GCTCCGTGGA GGAGGCGGTC
 CAGGCCCTCA TTGACCTGCA CAACCACGAC CTCGGGGAGA ACCACCACCT GCGGGTCTCC
 TTCTCCAAGT CCACCATCTA GGGGCACAGG CCCCCACGGC

GeneView

GeneView via analysis of contig annotation: PTBP1 polypyrimidine tract binding protein 1

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: PRG2 plasticity-related gene 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

reference

NT_011255->NM_002819

function

reference

NT_011255->NM_031990

function

reference

NT_011255->NM_031991

function

reference

NT_011255->NM_175847

function

HuRef

NW_001838476->NM_002819

function

Celera

NW_927140->NM_002819

function

Celera

NW_927140->NM_031990

function

Celera

NW_927140->NM_031991

function

Celera

NW_927140->NM_175847

function

HuRef

NW_001838476->NM_024888

function

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


reference	NT_011255->NM_002819->NP_002810	750445	forward	intron

reference	NT_011255->NM_031990->NP_114367	750445	forward	intron

reference	NT_011255->NM_031991->NP_114368	750445	forward	intron

reference	NT_011255->NM_175847->NP_787041	750445	forward	intron

HuRef	NW_001838476->NM_002819->NP_002810	568789	forward	intron

Celera	NW_927140->NM_002819->NP_002810	5764	reverse	intron

Celera	NW_927140->NM_031990->NP_114367	5764	reverse	intron

Celera	NW_927140->NM_031991->NP_114368	5764	reverse	intron

Celera	NW_927140->NM_175847->NP_787041	5764	reverse	intron

HuRef	NW_001838476->NM_024888->NP_079164	568789	reverse	3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs10426392 maps exactly once on NCBI human chromosome 19

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
19	NW_927140.1	5764	5764	minus	G	alt_assembly_1	Celera	Celera	view	400
19	NW_001838476.1	568789	579590	plus	C	alt_assembly_8	HuRef	HuRef	view	400
19	NT_011255.14	750445	761445	plus	C	ref_assembly	reference	reference	view	400

NCBI Resource Links

Submitter-Referenced
GenBank
NT_011255.14

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC006273.1 NC_000019.8	AC023583.2

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

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .