Reference SNP(refSNP) Cluster Report: rs4148687

Reference SNP(refSNP) Cluster Report: rs4148687

refSNP ID: rs4148687
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:	G
Clinical Association:	unknown

HGVS Names
NM_000492.3:c.54-9673G>A
NT_007933.14:g.42318210G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss6520715 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4148687 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
ss5602822	RIKENSNPRC\|ssj0000988	fwd/T	A/G	gagttaattccagaataacaatgatggctc	gaaaaatatgggtatttctgtcaaaggaca	10/18/02	10/10/03	110	Genomic	unknown
ss6520715	WI_SSAHASNP\|NT_007933.10_42311193	fwd/T	A/G	gagttaattccagaataacaatgatggctc	gaaaaatatgggtatttctgtcaaaggaca	02/12/03	10/25/06	111	Genomic	unknown
ss24012434	PERLEGEN\|afd0523845	fwd/T	A/G	gagttaattccagaataacaatgatggctc	gaaaaatatgggtatttctgtcaaaggaca	08/10/04	09/13/04	123	Genomic	unknown
ss50393396	UWGC\|CFTR-681239	fwd/T	A/G	gagttaattccagaataacaatgatggctc	gaaaaatatgggtatttctgtcaaaggaca	01/30/06	11/03/06	126	Genomic	unknown

Fasta sequence (Legend)

 ATAAGGATGT CTAGCATGCG CTTTGCCTGT AGTGGTTCAT GCCAGGCAGA TTCCTGACTC
 CTATAACCCA GAGCTTATCA GAGCATTTAT GTCCCCAAAG AGAAATGTCA CCTCCATCTT
 TCAATAAACA CTTTAGCAAA GAAAAATCAA GTACTTTAAT TCCAAATCTT GAGTTAATTC
 CAGAATAACA ATGATGGCTC
 R
 GAAAAATATG GGTATTTCTG TCAAAGGACA GAGAAACCTA GTAGAGAGTA TTTACTTTGG
 GTCCTAGTGA TGGTATCTGA ACAAGCTAGG TGAACAAAGA GCCTCAATAA GGGATTTTGA
 GGTCTAGAAA AAGAGAGGAA ATACCAAATA AATGGAATAA TTATAAAATA AATACCAGCA
 AAGTTAAATC AATATATCAT

GeneView

GeneView via analysis of contig annotation: CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

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_007933->NM_000492

function

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


reference	NT_007933->NM_000492->NP_000483	42318210	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs4148687 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_001839071.2	14154251	111500263	minus	C	alt_assembly_8	HuRef	HuRef	view	200
7	NW_923640.1	14701568	111942817	plus	G	alt_assembly_1	Celera	Celera	view	200
7	NT_079596.2	16565640	116530072	plus	G	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	200
7	NT_007933.14	42318210	116921870	plus	G	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NC_000007.8

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss24012434	AFD_EUR_PANEL	European	48	IG		0.292	0.708	0.439	0.146	0.854

	AFD_AFR_PANEL	African American	46	IG	0.043	0.304	0.652	1.000	0.196	0.804

	AFD_CHN_PANEL	Asian	48	IG	0.208	0.625	0.167	0.251	0.521	0.479

ss50393396	CFTR_PANEL	multiple	24	IG	0.167	0.500	0.333	1.000	0.417	0.583

ss6520715	HapMap-CEU	European	118	IG	0.068	0.271	0.661	0.251	0.203	0.797

	HapMap-HCB	Asian	90	IG	0.089	0.622	0.289	0.050	0.400	0.600

	HapMap-JPT	Asian	90	IG	0.089	0.489	0.422		0.333	0.667

	HapMap-YRI	Sub-Saharan African	120	IG	0.033	0.333	0.633	0.752	0.200	0.800

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.405+/-0.196	347	275	9	0

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 .