Reference SNP(refSNP) Cluster Report: rs3848666

Reference SNP(refSNP) Cluster Report: rs3848666

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	108/130
Map to Genome Build:	36.3

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

HGVS Names
NM_021232.1:c.272C>G
NP_067055.1:p.Pro91Arg
NT_011109.15:g.8571882G>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss5445596 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3848666 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
ss84149	TSC-CSHL\|TSC0032223	fwd/T	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	09/06/00	04/07/04	108	Genomic	unknown
ss5406948	TSC-CSHL\|TSC1422684	fwd/T	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	09/20/02	10/10/03	108	Genomic	unknown
ss5445596	TSC-CSHL\|TSC1345694	rev/B	C/G	gttacgtgctctgttcccaagctggtcccc	ctccaggggctggcagtccctgagctttga	09/20/02	05/16/04	108	Genomic	unknown
ss6060414	SC_JCM\|NT_011296.10_459329	fwd/T	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	01/10/03	10/10/03	111	Genomic	unknown
ss6633842	WI_SSAHASNP\|NT_011196.11_8352355	fwd/T	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	02/12/03	10/10/03	111	Genomic	unknown
ss44169757	ABI\|hCV928313	fwd/	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	07/18/05	07/18/05	126	Genomic	unknown
ss48431275	APPLERA_GI\|hCV928313	rev/	C/G	gttacgtgctctgttcccaagctggtcccc	ctccaggggctggcagtccctgagctttga	10/02/05	11/03/06	126	Genomic	unknown
ss74806275	AFFY\|SNP_M-175293	fwd/T	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	08/09/07	08/09/07	128	Genomic	unknown
ss74859752	ILLUMINA\|ILMN_Human_1M_rs3848666	fwd/	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	08/28/07	08/29/07	129	Genomic	unknown
ss90964151	BCMHGSC_JDW\|JWB-1166247	fwd/	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	02/26/08	03/01/08	129	Genomic	unknown
ss111346732	1000GENOMES\|CEU.trio.12.15.2008_3614309_chr19_40995504	fwd/	C/G	tcaaagctcagggactgccagcccctggag	ggggaccagcttgggaacagagcacgtaac	12/15/08	12/17/08	130	Genomic	unknown

Fasta sequence (Legend)

 ACGCAGCCCT TCACCTCCTC TGCTGTCTCA CCAGCCACAA ACTGCCCATA GACGGATGCT
 CGGAGAAATG CGCCTGAGAG CCGGGAGCCC AGGAGTCGCC GAGACCAGGC CTGGAGCTGG
 GTGACAGGGA GCGAGGGCTC AGCGCCAGGC TATGAGGAGC CTCCAGGCTG GTCCTCAGGA
 TCACTGCTCA CCAACAGCCC GTGAGTGACG AGTGGGGGCC AGGCACACAG CCGGAGAACC
 AGCAAGGCCC GTGTCAGCTC TCCTGTGCCC TTAAGGTGGA AGGCCCCGCC ATCAAAGCTC
 AGGGACTGCC AGCCCCTGGA G
 S
 GGGGACCAGC TTGGGAACAG AGCACGTAAC AGGTCCGGAG CATCCTGGGT CCCTGGCTGC
 CTCCACACCA GGGAAGGTTC TCTGGAGGCA GCAAGTTCAC CAACTGCCCC TTGCCCAGAC
 CAGGGGCAGT GACTGATTAA CTGGGCAAAG CCTCAGGATC ACAGGCTCCT TGGGGGCAAT
 TAATTATTAA CAAATGGGGA CAGAGTTCAG AGTAACGGAA ACGGGAGGTG AACCCCAGTA
 ACAGCCCCCA AGAATGCTCA GCACAACAGC CTGCACTTAT TAGGTAACCA CCATGTGCTG
 GGGAAAGCAG GGGCTCCGGA GCAAGGATCC CTGGGCTCAG GACACCGGGC TTTGTGATCC
 AGGACAGGCT ACTTAATCAC TTTTGTGGCA ATTGCTTCCT CTTAAAATTG GAAACGCTGT
 AGTGTTATTG AATACATTTG AAAATACGGT Tctcacgttt gtaatcccaa cactttggga
 ggccaagacC GAGG

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_011296.10

dbSNP Blast Analysis

UniGene Cluster ID
515366

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/G	G/G	HWP	C	G
ss48431275	AGI_ASP population	multiple	78	IG	0.154	0.846	0.655	0.077	0.923

ss5445596	CEPH		184	AF				0.080	0.920

	HapMap-CEU	European	116	IG	0.293	0.707	0.200	0.147	0.853

	HapMap-HCB	Asian	90	IG		1.000			1.000

	HapMap-JPT	Asian	80	IG		1.000			1.000

	HapMap-YRI	Sub-Saharan African	118	IG	0.017	0.983	1.000	0.008	0.992

ss84149	TSC_42_AA		82	AF				0.020	0.980

	TSC_42_C		82	AF				0.120	0.880

	TSC_42_A		84	AF					1.000

	SC_12_A	Asian	16	IG		1.000			1.000

	SC_12_AA	African American	22	IG		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.088+/-0.190	588	472	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, NCBI

UNKNOWN

Disclaimer Privacy statement

Revised: May 25, 2006 1:38 PM .