Reference SNP(refSNP) Cluster Report: rs4909

Reference SNP(refSNP) Cluster Report: rs4909

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	cDNA
Created/Updated in build:	52/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_006013.2:c.605G>A
NP_006004.1:p.Ser202Asn
NT_023133.12:g.12853519A>G
XM_001714914.1:c.-315T>C
XM_001722498.1:c.605A>G
XM_001722500.1:c.464A>G
XM_001724324.1:c.200A>G
XM_001726591.1:c.200A>G
XM_001726644.1:c.605G>A
XM_001726646.1:c.464G>A
XM_931532.3:c.605A>G
XM_945799.3:c.605A>G
XP_001722550.1:p.Asn202Ser
XP_001722552.1:p.Asn155Ser
XP_001724376.1:p.Asn67Ser
XP_001726643.1:p.Asn67Ser
XP_001726696.1:p.Ser202Asn
XP_001726698.1:p.Ser155Asn
XP_936625.1:p.Asn202Ser
XP_950892.1:p.Asn202Ser

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss3172627 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4909 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
ss5369	DEBNICK\|cSNP-93	fwd/T	A/G	cagatggctgtggggtcaagtacatcccca	tcgtggccctctggacaagtggcgggccct	06/04/99	10/10/03	52	cDNA	unknown
ss2984185	YUSUKE\|IMS-JST005828	fwd/T	A/G	cagatggctgtggggtcaagtacatcccca	tcgtggccctctggacaagtggcgggccct	05/24/01	10/10/03	96	Genomic	unknown
ss3172627	WIAF-CSNP\|WIAF-13517	fwd/T	A/G	cagatggctgtggggtcaagtacatcccca	tcgtggccctctggacaagtggcgggccct	06/19/01	04/07/04	98	cDNA	unknown
ss4442372	LEE\|e2087353	fwd/T	A/G	cagatggctgtggggtcaagtacatcccca	tcgtggccctctggacaagtggcgggccct	04/26/02	10/10/03	106	cDNA	unknown
ss16245100	CGAP-GAI\|1487993	fwd/T	A/G	cagatggctgtggggtcaagtacatcccca	tcgtggccctctggacaagtggcgggccct	11/18/03	11/22/03	120	cDNA	unknown
ss16261163	CGAP-GAI\|1522598	rev/B	C/T	agggcccgccacttgtccagagggccacga	tggggatgtacttgaccccacagccatctg	11/18/03	11/22/03	120	cDNA	unknown

Fasta sequence (Legend)

 TGCGCAGGGC CAAGTTCAAG TTTCCTGGCC GCCAGAAGAT CCACATCTCA AAGAAGTGGG
 GCTTCACCAA GTTCAATGCT GATGAATTTG AAGACATGGT GGCTGAAAAG CGGCTCATCC
 CAGATGGCTG TGGGGTCAAG TACATCCCCA
 R
 TCGTGGCCCT CTGGACAAGT GGCGGGCCCT GCACTCATGA GGGCTTCCAA TGTGCTGCCC
 CCCTCTTAAT ACTCACCAAT AAATTCTACT TCCTGTCCAC CT

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NM_006013 AI469124 AW075203 Hs.29797

dbSNP Blast Analysis

UniGene Cluster ID
401929

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss3172627	WIAF-CSNP-MITOGPOP5	multiple	52	IG	0.346	0.038	0.615	0.001	0.365	0.635

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.464+/-0.130	26	26	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

YES

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Revised: May 25, 2006 1:38 PM .