Reference SNP(refSNP) Cluster Report: rs2919444

Reference SNP(refSNP) Cluster Report: rs2919444

refSNP ID: rs2919444
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	101/129
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_001083962.1:c.549+22368G>A
NM_003199.2:c.549+22368G>A
NT_025028.13:g.786086C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss4118364 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2919444 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss4118364	SC_JCM\|AC013587.6_104776		fwd/B	C/T	atgccattatctacatgaacataacatctt	taggaaattcaacaaaccagagatacaaaa	10/15/01	10/10/03	101	Genomic			unknown

Fasta sequence (Legend)

 ATGTGGCATT ATAAAAACTC ACACAGACAT ATATGGTTTG GAGAGACAGC AGCATGCAAA
 ATAGATGCAA AAACCAGATT CTCAAATTTC AGTATACAGT GAAATCTGAT CAGATTCATT
 TCCCCACTTT TCCACATATT TTCATGTCTG AGGTAAAGAA TTCAATGAGT ATGCCATTAT
 CTACATGAAC ATAACATCTT
 Y
 TAGGAAATTC AACAAACCAG AGATACAAAA TGGCATCACC CTGCAAACAA GGTAAAATGT
 AGCTAATAGC ATTATGTGAT ATGGCAAAGT GTAATACCAA GTAGCAAGAC CAGAATATAT
 AGATTTTTAG GTTTAATTAC ACTGGAACCT ACACATTTGA CTCAAAGTGA AATTCACTTC
 TTCCTTCCTC AATTTTTTGC

GeneView

GeneView via analysis of contig annotation: TCF4 transcription factor 4

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_025028->NM_001083962

function

reference

NT_025028->NM_003199

function

HuRef

NW_001838469->NM_001083962

function

HuRef

NW_001838469->NM_003199

function

Celera

NW_927106->NM_001083962

function

Celera

NW_927106->NM_003199

function

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


reference	NT_025028->NM_001083962->NP_001077431	786086	reverse	intron

reference	NT_025028->NM_003199->NP_003190	786086	reverse	intron

HuRef	NW_001838469->NM_001083962->NP_001077431	788189	reverse	intron

HuRef	NW_001838469->NM_003199->NP_003190	788189	reverse	intron

Celera	NW_927106->NM_001083962->NP_001077431	8306172	reverse	intron

Celera	NW_927106->NM_003199->NP_003190	8306172	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2919444 maps exactly once on NCBI human chromosome 18

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
18	NW_001838469.1	788189	49704840	plus	C	alt_assembly_8	HuRef	HuRef	view	200
18	NW_927106.1	8306172	49712589	plus	C	alt_assembly_1	Celera	Celera	view	200
18	NT_025028.13	786086	51146220	plus	C	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
AC013587 AC090405

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC013587.10 NC_000018.8	AC090405.2 AP001493.2 AP001544.3

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 .