Reference SNP(refSNP) Cluster Report: rs4148850

Reference SNP(refSNP) Cluster Report: rs4148850

refSNP ID: rs4148850
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	110/129
Map to Genome Build:	36.3

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

HGVS Names
NM_007188.3:c.1617+305A>G
NT_007914.14:g.11314640A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss42973467 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4148850 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
ss5603133	RIKENSNPRC\|ssj0000247	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	10/18/02	10/10/03	110	Genomic	unknown
ss14576450	WUGSC_SSAHASNP\|chr7.NT_007914.13_11314640	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	11/05/03	11/22/03	120	Genomic	unknown
ss17183039	CSHL-HAPMAP\|CSHL-HuAA-200402.chr7.NT_007914.13_11314640	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	02/17/04	03/04/04	120	Genomic	unknown
ss22571613	SSAHASNP\|WGSA-200403-chr7.chr7.NT_007914.13_11314640	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	03/21/04	03/21/04	121	Genomic	unknown
ss42973467	ABI\|hCV29632372	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	07/18/05	03/31/08	126	Genomic	unknown
ss65805801	ILLUMINA\|Human1-rs4148850	fwd/B	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	10/10/06	10/10/06	127	Genomic	unknown
ss74859859	ILLUMINA\|ILMN_Human_1M_rs4148850	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	08/28/07	08/29/07	129	Genomic	unknown
ss76783454	AFFY\|AFFY_6_1M_SNP_A-8644959	rev/B	C/T	ctcagcacctccacta	aggcttctctagacct	08/28/07	08/30/07	129	Genomic	unknown
ss77776553	HGSV\|Cor12156_SNV_20070510.chr7_150176272	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	10/09/07	10/14/07	129	Genomic	unknown
ss78732230	HGSV\|Cor12878_SNV_20070510.chr7_150176272	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	10/17/07	10/20/07	129	Genomic	unknown
ss80978478	HGSV\|Cor18507_SNV_20070510.chr7_150176272	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	11/26/07	11/27/07	130	Genomic	unknown
ss93791451	BCMHGSC_JDW\|JWB-2393316	fwd/T	A/G	atcccatagcatccaggtctagagaagcct	tagtggaggtgctgagctgcagccgttctc	02/26/08	03/05/08	129	Genomic	unknown

Fasta sequence (Legend)

 GGGGCCACAT GGGCAGCCCT TGGCTCCCAC TGCCCGTCCT CCCCTGGGCC CTGCCCCCTT
 AGTCCTCAGG TGCCTTTTCT TTCTTTCCCA CCCTCATCCT TGCTGCTCTC GGGAGACCCT
 GGCCGTCTTC ACATGTCCTC AGCTGTTGTC TGGGTGAGGC ATCCCTGTCG TGGGAGCAGC
 CACAGCTCTG CCTGGTCTCC CAGAGCAGGG ACGCTTTGTC CGCATTTACA GCAGTCTACA
 CAGATGGGGA ATCCCTCAGA TTCTCTGCAA ATCCCATAGC ATCCAGGTCT AGAGAAGCCT
 R
 TAGTGGAGGT GCTGAGCTGC AGCCGTTCTC CCTCTGCTTG AGGTGGCACT GCCCAGCGAG
 GGTCCACCCT TCCCTTTGAG GGCCGTGAAT GAAGAGGGCA TGCCTGCTGT CCGCCAGGGA
 GAGTGCCTGT GCAGAAGAAA GGCAAATGCA AGCCCCCAAC TCCCAGCGCC CTGCCCTGCC
 AGCTCCTCCC ACTCCCACTC CTGGGGAGGG ATTCTGGGCC CTTGGTAGGA AGTCGAACTG
 TCCTTCCCTT TTGGGGGCCA CTCTGCATCC TCACTTCACC TCTGACTTTG AACGTCTGAT

GeneView

GeneView via analysis of contig annotation: ABCB8 ATP-binding cassette, sub-family B (MDR/TAP), member 8

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_007914->NM_007188

function

HuRef

NW_001839088->NM_007188

function

Celera

NW_923751->NM_007188

function

CRA_TCAGchr7v2

NT_079596->NM_007188

function

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


reference	NT_007914->NM_007188->NP_009119	11314640	forward	intron

HuRef	NW_001839088->NM_007188->NP_009119	1760893	reverse	intron

Celera	NW_923751->NM_007188->NP_009119	753422	forward	intron

CRA_TCAGchr7v2	NT_079596->NM_007188->NP_009119	50103731	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs4148850 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_001839088.2	1760893	144550960	minus	C	alt_assembly_8	HuRef	HuRef	view	300
7	NW_923751.1	753422	145295933	plus	A	alt_assembly_1	Celera	Celera	view	300
7	NT_079596.2	50103731	150068163	plus	A	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	300
7	NT_007914.14	11314640	150369557	plus	A	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007914

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC010973.6 NC_000007.12	AC092466.2 AC093640.2

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss42973467	HapMap-CEU	European	116	IG	0.672	0.276	0.052		0.810	0.190

	HapMap-HCB	Asian	90	IG	0.467	0.378	0.156		0.656	0.344

	HapMap-JPT	Asian	88	IG	0.523	0.341	0.136		0.693	0.307

	HapMap-YRI	Sub-Saharan African	118	IG	0.712	0.271	0.017		0.847	0.153

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.363+/-0.223	270	210	0	0

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

UNKNOWN

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Revised: May 25, 2006 1:38 PM .