Reference SNP(refSNP) Cluster Report: rs34666677

Reference SNP(refSNP) Cluster Report: rs34666677

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/130
Map to Genome Build:	36.3

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

HGVS Names
NM_177998.1:c.1478A>C
NP_819056.1:p.Lys493Thr
NT_006051.17:g.286528T>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48430854 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34666677 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
ss48430854	APPLERA_GI\|hCV25770133	fwd/T	A/C	gtgtggccagagatgtggctccccagggca	ggacatgccaccagcagccaatggaaatgt	10/02/05	11/03/06	126	Genomic	unknown
ss68888575	PERLEGEN\|PGP17793023	rev/B	G/T	acatttccattggctgctggtggcatgtcc	tgccctggggagccacatctctggccacac	01/30/07	03/31/08	127	Genomic	unknown
ss112862184	1000GENOMES\|CEU.trio.12.15.2008_901899_chr4_4249984	rev/B	G/T	acatttccattggctgctggtggcatgtcc	tgccctggggagccacatctctggccacac	12/15/08	12/18/08	130	Genomic	unknown

Fasta sequence (Legend)

 TCTTGGTGGG CACTGCCTCG GGCTCCTGGC TTATCTCCTG GGGCTCAATC TTGGCCATCC
 TCTGTGCTGA GGGCCACCCC CGCTACACCT GGTACAACCT GCCCTACTCC ATCCTGGCGA
 TCGTGGAGAA GTACATCCAG AACCTCTTCA TCTTTGAATC CATTCACCGA GAGCCTGAAA
 AACTCTCTGA GGACATCCAA ACCCTTCGGG TGGTCACAGT CTGCAATGGC AACACCATGC
 CCCTTGCTTC TTCCTGCCCC AAGAGTGGAG GTGTGGCCAG AGATGTGGCT CCCCAGGGCA
 M
 GGACATGCCA CCAGCAGCCA ATGGAAATGT GTGCATGAGA GAAAGCCATG ACAAGGAGGA
 GGAGAAGCAG GAGGAGAGCA GCTGGGGAGG GAGCCCAAGC CCAGTCCGCC TTCCCCGTTT
 CTTACAGGGC AACGCCAAGA GAAAAGTCCT GAGGAATATT GCAGCCTTCT TGTTCCTCTG
 CAATATTTCG GTAATCTGCA CCAAGTTATT CTTATTCTTT TAATTTTACT TTAAACTTTC
 ATTTTCGGTT CAAGGGGTAC ACATGCAGAT TTGTTAAATG GGTAAATTGC GTGTTGCTGA

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
NC_000004.9

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/C	C/C	HWP	A	C
ss48430854	AGI_ASP population	multiple	78	IG	0.821	0.154	0.026	0.317	0.897	0.103

ss68888575	HapMap-CEU	European	120	GF	0.733	0.267			0.867	0.133

	HapMap-HCB	Asian	90	GF	0.911	0.089			0.956	0.044

	HapMap-JPT	Asian	90	GF	0.956	0.044			0.978	0.022

	HapMap-YRI	Sub-Saharan African	120	GF	1.000				1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.113+/-0.209	309	249	0	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 .