Reference SNP(refSNP) Cluster Report: rs2244829

Reference SNP(refSNP) Cluster Report: rs2244829

refSNP ID: rs2244829
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:	C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_001715.2:c.175+693A>G
NT_077531.3:g.3879655A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss11958008 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2244829 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
ss3459150	SC_JCM\|AC087618.3_119574	fwd/B	C/T	aggcgggcagatcacctgaggtcaggagtt	aagaccaatctggccaacatggtgaaaccc	09/24/01	10/10/03	100	Genomic	unknown
ss3854150	SC_JCM\|AC087618.2_118786	fwd/B	C/T	aggcgggcagatcacctgaggtcaggagtt	aagaccaatctggccaacatggtgaaaccc	09/25/01	10/10/03	100	Genomic	unknown
ss6687482	WI_SSAHASNP\|NT_019483.13_5083938	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	02/12/03	10/10/03	111	Genomic	unknown
ss11958008	WI_SSAHASNP\|chr8.NT_077531.2_3714337	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	07/04/03	10/10/03	116	Genomic	unknown
ss17220845	CSHL-HAPMAP\|CSHL-HuAA-200402.chr8.NT_077531.3_3879655	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	02/17/04	03/04/04	120	Genomic	unknown
ss20342860	CSHL-HAPMAP\|CSHL-HuFF-200402.chr8.NT_077531.3_3879655	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	02/21/04	03/04/04	120	Genomic	unknown
ss22782129	SSAHASNP\|WGSA-200403-chr8.chr8.NT_077531.3_3879655	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	03/21/04	03/21/04	121	Genomic	unknown
ss81286331	HGSV\|Cor18507_SNV_20070510.chr8_11441714	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	11/26/07	11/29/07	130	Genomic	unknown
ss81938205	HGSV\|Cor18555_SNV_20070510.chr8_11441714	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	11/27/07	12/01/07	130	Genomic	unknown
ss84667781	HGSV\|Cor19129_SNV_20070510.chr8_11441714	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	12/06/07	12/07/07	130	Genomic	unknown
ss84780289	HGSV\|Cor18517_SNV_20070510.chr8_11441714	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	12/06/07	12/08/07	130	Genomic	unknown
ss93832472	BCMHGSC_JDW\|JWB-2423829	rev/T	A/G	gggtttcaccatgttggccagattggtctt	aactcctgacctcaggtgatctgcccgcct	02/26/08	03/05/08	129	Genomic	unknown

Fasta sequence (Legend)

 AATGGGTGGG GCCCGGCTGG CCGAGGCATC CCTTCCCCAT GCTGTGTGGA CATGGATGAT
 GAGGAGGCTG CGGGAAGTCA CTTTGAAGGA GGCCACCCTC TTGGGAGTCC CCAGGGGTGG
 AGCCTCTGGC CCAGAAAGGC TGAGCTCATT CCCTACAGTA CCCAGCAGGC CAGCCCACCA
 GAGCAGAAGT GGAGTCTAGG ggccacgcac agtggctcac gcctgtaatc ccagcacttt
 gagaggctga ggcgggcaga tcacctgagg tcaggagtt
 Y
 aagaccaatc tggccaacat ggtgaaaccc cctcactagt aaaaacataa aaattagccc
 ggtgtggttg tgtgcacctg taatcccagc tacttgggag gctgaggcag gagaatctct
 tgaacccggg aggtggaggt tgcagtgagc tgaggttggg tcactgcact gcagcctggg
 tgacaagagc gagactctgt ctcaaaaaaa aCCAAGTGGA GTCTGGGGAC CAGGTAGGGG
 CGTGGGTGGT TAGGTGGTCA GCAGCGGGAC TCTCGAAGTG ACTGGGAGCG GGAAACAAGA
 AGGTGCCCTC CACATAGAGC GGACAGGGGC TGGAGGCAAG GGCCTGGAGC CACTGGCCCA
 GCCCTTTGCG TTTGAGAGTT AGCATATTTT AAAACTTGGG TTTGATGATG C

GeneView

GeneView via analysis of contig annotation: BLK B lymphoid tyrosine kinase

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_077531->NM_001715

function

HuRef

NW_001839122->NM_001715

function

Celera

NW_923873->NM_001715

function

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


reference	NT_077531->NM_001715->NP_001706	3879655	forward	intron

HuRef	NW_001839122->NM_001715->NP_001706	652642	reverse	intron

Celera	NW_923873->NM_001715->NP_001706	3320977	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2244829 maps exactly once on NCBI human chromosome 8

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
8	NW_001839122.2	652642	10335642	plus	C	alt_assembly_8	HuRef	HuRef	view	279
8	NW_923873.1	3320977	10533651	minus	G	alt_assembly_1	Celera	Celera	view	279
8	NT_077531.3	3879655	11441714	minus	A	ref_assembly	reference	reference	view	279

NCBI Resource Links

Submitter-Referenced
GenBank
NT_077531 AC022239

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC022239.16 NC_000008.9	AC087618.3

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 .