Reference SNP(refSNP) Cluster Report: rs3816300

Reference SNP(refSNP) Cluster Report: rs3816300

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	107/130
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_003181.2:c.1106A>G
NP_003172.1:p.Asn369Ser
NT_007422.13:g.8859346T>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44755252 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3816300 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
ss5002713	YUSUKE\|IMS-JST176710	fwd/T	A/G	ccccgggctcccaggcagcagccgtgtcca	cgggctgggggcccagttcttccggggctc	08/12/02	10/10/03	107	Genomic	unknown
ss17907309	CSHL-HAPMAP\|CSHL-HuCC-200402.chr6.NT_007422.12_8859346	rev/B	C/T	gagccccggaagaactgggcccccagcccg	tggacacggctgctgcctgggagcccgggg	02/19/04	03/04/04	120	Genomic	unknown
ss24146227	PERLEGEN\|afd4068312	rev/B	C/T	gagccccggaagaactgggcccccagcccg	tggacacggctgctgcctgggagcccgggg	08/10/04	09/13/04	123	Genomic	unknown
ss44755252	ABI\|hCV442143	rev/B	C/T	gagccccggaagaactgggcccccagcccg	tggacacggctgctgcctgggagcccgggg	07/19/05	11/03/06	126	Genomic	unknown
ss48426974	APPLERA_GI\|hCV442143	fwd/T	A/G	ccccgggctcccaggcagcagccgtgtcca	cgggctgggggcccagttcttccggggctc	09/28/05	11/03/06	126	Genomic	unknown
ss68379444	CSHL-HAPMAP\|sanger:assay:1728222:1	rev/B	C/T	gagccccggaagaactgggcccccagcccg	tggacacggctgctgcctgggagcccgggg	01/11/07	01/16/07	127	NA	unknown
ss74885020	ILLUMINA\|ILMN_Human_1M_rs3816300	fwd/T	A/G	ccccgggctcccaggcagcagccgtgtcca	cgggctgggggcccagttcttccggggctc	08/28/07	08/29/07	129	Genomic	unknown
ss81038471	HGSV\|Cor18555_SNV_20070510.chr6_166542416	rev/B	C/T	gagccccggaagaactgggcccccagcccg	tggacacggctgctgcctgggagcccgggg	11/27/07	11/27/07	130	Genomic	unknown
ss93603237	BCMHGSC_JDW\|JWB-2252651	rev/B	C/T	gagccccggaagaactgggcccccagcccg	tggacacggctgctgcctgggagcccgggg	02/26/08	03/04/08	129	Genomic	unknown
ss98562187	HUMANGENOME_JCVI\|1103705068266	rev/B	C/T	gagccccggaagaactgggcccccagcccg	tggacacggctgctgcctgggagcccgggg	04/01/08	04/01/08	130	Genomic	unknown

Fasta sequence (Legend)

 TCATCTTCCT GATGATTTTG TTTCTTATTA ATAGATACGA CAATAACTTC TATACATCAC
 AGATTGTGCT TGTGAGTCCT TTAATAATTT GGAGAAAATG ACCTGTTTGA AAGAAGAAAA
 CTGTCATATT ACACAGTCAC TCCGAATGGG ATTTCTGGTG TGTTTTTCCA TCCTTAGCTG
 GCCTGCAGCC CCTGCCCAGG CCCTGCTCAC TGGTGTCTTT CTGTTGCAGT CAGTACCCCA
 GCCTGTGGTC TGTGAGCAAC GGCGCCGTCA CCCCGGGCTC CCAGGCAGCA GCCGTGTCCA
 R
 CGGGCTGGGG GCCCAGTTCT TCCGGGGCTC CCCCGCGCAC TACACACCCC TCACCCATCC
 GGTCTCGGCG CCCTCTTCCT CGGGATCCCC ACTGTACGAA GGGGCGGCCG CGGCCACAGA
 CATCGTGGAC AGCCAGTACG ACGCCGCAGC CCAAGGCCGC CTCATAGCCT CATGGACACC
 TGTGTCGCCA CCTTCCATGT GAAGCAGCAA GGCCCAGGTC CCGAAAGATG CAGTGACTTT
 TTGTCGTGGC AGCCAGTGGT GACTGGATTG ACCTACTAGG TACCCAGTGG CAGTCTCAGG

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
NT_007422 ABBA01015077

dbSNP Blast Analysis

UniGene Cluster ID
389457

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss24146227	AFD_EUR_PANEL	European	48	IG	0.958	0.042		1.000	0.979	0.021

	AFD_AFR_PANEL	African American	44	IG	0.727	0.227	0.045	0.527	0.841	0.159

	AFD_CHN_PANEL	Asian	48	IG	0.208	0.583	0.208	0.439	0.500	0.500

ss44755252	HapMap-CEU	European	118	IG	0.881	0.119		0.655	0.941	0.059

	HapMap-HCB	Asian	86	IG	0.279	0.465	0.256	0.479	0.512	0.488

	HapMap-JPT	Asian	88	IG	0.273	0.455	0.273	0.584	0.500	0.500

	HapMap-YRI	Sub-Saharan African	118	IG	0.542	0.373	0.085	0.752	0.729	0.271

ss48426974	AGI_ASP population	multiple	68	IG	0.794	0.206		0.527	0.897	0.103

ss5002713	JBIC-allele		734	AF					0.510	0.490

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.390+/-0.207	1302	1090	15	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	UNKNOWN

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .