Reference SNP(refSNP) Cluster Report: rs4378600

Reference SNP(refSNP) Cluster Report: rs4378600

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	111/130
Map to Genome Build:	36.3

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

HGVS Names
NM_031463.3:c.980G>C
NP_113651.3:p.Cys327Ser

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss43825663 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4378600 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
ss5841045	SC_JCM\|NT_010422.10_1125739	fwd/B	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	01/10/03	05/16/04	111	Genomic	unknown
ss16228217	CGAP-GAI\|1464480	rev/T	C/G	tcaaccgttcactacgtaaggaagccttat	ctgcacagcctgagtctggatggccacttg	11/18/03	11/22/03	120	cDNA	unknown
ss21339139	SSAHASNP\|WGSA-200403-chr16.chr16.NT_024797.14_10870099	fwd/B	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	03/19/04	03/19/04	121	Genomic	unknown
ss24474363	PERLEGEN\|afd3203414	fwd/B	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	08/10/04	09/13/04	123	Genomic	unknown
ss43825663	ABI\|hCV1521173	fwd/	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	07/18/05	11/03/06	126	Genomic	unknown
ss48403669	APPLERA_GI\|hCV1521173	rev/	C/G	tcaaccgttcactacgtaaggaagccttat	ctgcacagcctgagtctggatggccacttg	09/28/05	11/03/06	126	Genomic	unknown
ss65728252	ILLUMINA\|Human1-rs4378600	fwd/B	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	10/10/06	10/10/06	127	Genomic	unknown
ss69352983	PERLEGEN\|PGP03203414	fwd/	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	01/30/07	03/31/08	127	Genomic	unknown
ss74807728	AFFY\|SNP_M-178962	fwd/B	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	08/09/07	08/09/07	128	Genomic	unknown
ss74875093	ILLUMINA\|ILMN_Human_1M_rs4378600	fwd/	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	08/28/07	08/29/07	129	Genomic	unknown
ss90479356	BCMHGSC_JDW\|JWB-0980246	fwd/	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	02/26/08	02/29/08	129	Genomic	unknown
ss96653683	HUMANGENOME_JCVI\|1103645537882	fwd/	C/G	caagtggccatccagactcaggctgtgcag	ataaggcttccttacgtagtgaacggttga	03/27/08	03/27/08	130	Genomic	unknown

Fasta sequence (Legend)

 GCTCTAGAAC AACAGAAAAG CGTAACTTTC AAACAGCTTA GGGAAAAAGC ACTGAAATGT
 AGATGTCGTC AATCAGCCTC AGGCATTATT GATCCTGTGC CATCCACACA CCCTTAAGGT
 TTTTCACAGC ACTCTGACGG TATTATGTGT GTTTTGCAAA TGACGAATCA ACAGTATGCT
 GAATAATCAG CAATGAAACA CAGGAGATAA ATTAAATGTG TTTTTCCAAA TGTCAGAATA
 TCGAGGTTCC CAGGAGTTGG CAAAACTTCT CAAGTGGCCA TCCAGACTCA GGCTGTGCAG
 S
 ATAAGGCTTC CTTACGTAGT GAACGGTTGA GAATATTTGC TCCCCACACC CAGAGCCATT
 CAGGCATATA CTGTGCAAAA AGAAACTAAA AATGAAAGAG AAAAAGGTTG TAAGGTTAGA
 ACCCAAAATC AACACTGAAG GAACAAGTAC ACAGACCAGC ACATGAAACC CACCAATCAC
 AACAAATACC CACCAATCAA TCACAACAAA TACCCACCAA TCACAACAAA TACCCACCAA
 TCAATCACAA CAAATACCCA CCAATCACAA CAAATACCCA CCAATCACAA CAAATACCCA

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_024797 ABBA01016920 BM467275

dbSNP Blast Analysis

UniGene Cluster ID
499483

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G
ss24474363	AFD_EUR_PANEL	European	48	IG	0.083	0.500	0.417	0.584	0.333	0.667

	AFD_AFR_PANEL	African American	46	IG	0.087	0.304	0.609	0.439	0.239	0.761

	AFD_CHN_PANEL	Asian	48	IG	0.042	0.292	0.667	1.000	0.188	0.812

ss43825663	HapMap-CEU	European	120	IG	0.117	0.433	0.450	1.000	0.333	0.667

	HapMap-HCB	Asian	88	IG	0.023	0.318	0.659	0.655	0.182	0.818

	HapMap-JPT	Asian	86	IG	0.070	0.349	0.581	0.752	0.244	0.756

	HapMap-YRI	Sub-Saharan African	120	IG		0.317	0.683	0.150	0.158	0.842

	AoD_African_American		90	AF					0.270	0.730

	AoD_Caucasian		92	AF					0.380	0.620

ss48403669	AGI_ASP population	multiple	74	IG	0.027	0.514	0.459	0.150	0.284	0.716

ss5841045	CEPH		184	AF					0.220	0.780

	CHMJ	Asian	74	IG					0.351	0.649

ss69352983	HapMap-CEU	European	120	GF	0.117	0.433	0.450		0.333	0.667

	HapMap-HCB	Asian	90	GF	0.022	0.311	0.667		0.178	0.822

	HapMap-JPT	Asian	90	GF	0.067	0.378	0.556		0.256	0.744

	HapMap-YRI	Sub-Saharan African	120	GF		0.317	0.683		0.158	0.842

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.364+/-0.223	620	497	276	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, NCBI

UNKNOWN

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .