Reference SNP(refSNP) Cluster Report: rs2798226

Reference SNP(refSNP) Cluster Report: rs2798226

refSNP ID: rs2798226
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	G
Clinical Association:	unknown

HGVS Names
NM_001012982.2:c.596+83C>T
NM_001042690.1:c.596+83C>T
NT_006081.18:g.1760944C>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44541454 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2798226 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
ss3963400	SC_JCM\|AL390059.4_130174	fwd/T	A/G	gcctctgcaaccactgtggccgccgccgcc	gccttgccactcccagtccctttctctaaa	09/25/01	10/10/03	100	Genomic	unknown
ss6459699	WI_SSAHASNP\|NT_006081.13_680333	rev/B	C/T	tttagagaaagggactgggagtggcaaggc	ggcggcggcggccacagtggttgcagaggc	02/12/03	10/10/03	111	Genomic	unknown
ss17015973	CSHL-HAPMAP\|CSHL-HuAA-200402.chr4.NT_006081.16_641834	rev/B	C/T	tttagagaaagggactgggagtggcaaggc	ggcggcggcggccacagtggttgcagaggc	02/17/04	03/04/04	120	Genomic	unknown
ss22190155	SSAHASNP\|WGSA-200403-chr4.chr4.NT_006081.16_641834	rev/B	C/T	tttagagaaagggactgggagtggcaaggc	ggcggcggcggccacagtggttgcagaggc	03/20/04	03/21/04	121	Genomic	unknown
ss44541454	ABI\|hCV2480526	rev/B	C/T	tttagagaaagggactgggagtggcaaggc	ggcggcggcggccacagtggttgcagaggc	07/19/05	07/19/05	126	Genomic	unknown
ss92442534	BCMHGSC_JDW\|JWB-1726389	rev/B	C/T	tttagagaaagggactgggagtggcaaggc	ggcggcggcggccacagtggttgcagaggc	02/26/08	03/03/08	129	Genomic	unknown

Fasta sequence (Legend)

 GGGCGCATTC TGGGGTCTGG GGCTTGGTCT CCCTCCGTGT GCCGGGCCCC ATGCTGCGTC
 TTCTCTCCTG TGATGCTCCC AGCCACCCTC TGAGAAAGGT ACTGATTTAC CCCCATTTTA
 TAGGAGGGAG ACTGAGGCCA GAGAAGTCAA GGAACTTTCC GTGCAGCTCA AAAGTGATGG
 AGCTGGGAGA CAAACTCGGT CTGCCTGTGG ACACTAAAGC CCTCCCTGGT CTGAGGCCGC
 CTGTCCCTGG AGGCGCTGCC CGCAGCCACG GCCTCTGCAA CCACTGTGGC CGCCGCCGCC
 R
 GCCTTGCCAC TCCCAGTCCC TTTCTCTAAA TGGCGGGGGC TGAGATACCC CAGGGCAGGG
 GAAGGACAAG CAGACACACT ACCTGAACTT AAGGGACAGT AAGCTGGAGG AGCTGTCGGA
 GCGATCATCC TCGAAGCGGC CTTCGTAGGA GCACTGGTTA TACGGGAAGT ACAGAGGGGT
 GGACTTAGCG GGCGGCGACA GGGACGCCTC GGTCTGGGAC GTGGAGGGCC CCGGCGGCTG
 GCTGTCCGGC AGTTTGCCAT CACAGGACTC GGGGACCTTG GCCAGAATCC CATCAATGGC

GeneView

GeneView via analysis of contig annotation: C4orf44 chromosome 4 open reading frame 44

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_006081->NM_001012982

function

reference

NT_006081->NM_001042690

function

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


reference	NT_006081->NM_001012982->NP_001013000	1760944	forward	intron

reference	NT_006081->NM_001042690->NP_001036155	1760944	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2798226 maps exactly once on NCBI human chromosome 4

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
4	NW_921918.1	3166816	3166816	minus	T	alt_assembly_1	Celera	Celera	view	300
4	NW_001838896.2	560361	3193773	plus	A	alt_assembly_8	HuRef	HuRef	view	300
4	NT_006081.18	1760944	3225090	minus	C	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_006081 AC005516 Z69837

dbSNP Blast Analysis
GenBank HTGS Finished:
AL390059.10 Z69837.1

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, NCBI

UNKNOWN

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Revised: May 25, 2006 1:38 PM .