Reference SNP(refSNP) Cluster Report: rs4500037

Reference SNP(refSNP) Cluster Report: rs4500037

refSNP ID: rs4500037
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	111/129
Map to Genome Build:	36.3

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

HGVS Names
NM_152701.2:c.9037-407T>G
NT_030008.6:g.100153T>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss42935934 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4500037 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
ss6058933	SC_JCM\|NT_030008.5_100153		fwd/B	G/T	catgcccggctatttttttttttttttttg	atttttagtagagacagggtttcaccatgt	01/10/03	10/10/03	111	Genomic			unknown
ss42935934	ABI\|hCV26216276		fwd/B	G/T	catgcccggctatttttttttttttttttg	atttttagtagagacagggtttcaccatgt	07/18/05	07/18/05	126	Genomic			unknown

Fasta sequence (Legend)

 TCTGGCAAAT ACTTAAATGA TCCCTCTCTT CTTAAAAAAG TGAGATGAGT AGATGCATGT
 ATACAAGTGA GTTTCTTATA GCACTTGGTC ACTGCTCCCT AAGAAGAAGC TCTTTCTTTC
 TTTCTTTCTT TTTTTTTTTT TGTGTCTCAC TCTGTCACCC AGCTGGAGTA CAGTGGCGTG
 ATCTCGGCTC ACTGCAACCT CCGCCTCCTG GGTTCAAGCG ATTCTCCTGC CTCAGCCTCC
 TGAGTAGCTG GGATTACAGG GATGTGCCAC CATGCCCGGC TATTTTTTTT TTTTTTTTTG
 K
 ATTTTTAGTA GAGACAGGGT TTCACCATGT TGGTCAGGCT GGTCTCGAAC TCCTGACCTT
 TGATCTGCCC ACCTCGGCCT CCCAAAGTGC TGGGATTACA GGTGTGAGCC ACCACACCCA
 GCCAGAAGAA ACTCTTTCTA AAGTAAATGT TCTTAAAACA TACAGGCCTT AGAGAGAGTA
 GACCAGTAAC CAGAAAATAC CACAGAACCT GGCATTTTGG TTTATTGTCA TATAAATTAT
 TTAAGTTATT CCCAGGGGAG TAAGGTATGA CTTTATTTAG TGATTTATGG GTTGAATGGT

GeneView

GeneView via analysis of contig annotation: ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13

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_030008->NM_152701

function

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


reference	NT_030008->NM_152701->NP_689914	100153	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs4500037 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_001839006.2	2030307	48223412	minus	A	alt_assembly_8	HuRef	HuRef	view	300
7	NT_030008.6	100153	48308102	plus	T	ref_assembly	reference	reference	view	300
7	NT_079592.2	48328622	48378622	plus	T	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	300
7	NW_923273.1	4263776	48439126	plus	T	alt_assembly_1	Celera	Celera	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_030008.5

dbSNP Blast Analysis

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 .