Reference SNP(refSNP) Cluster Report: rs408308

Reference SNP(refSNP) Cluster Report: rs408308

refSNP ID: rs408308
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	80/129
Map to Genome Build:	36.3

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

HGVS Names
NM_000336.2:c.881-507C>T
NT_010393.15:g.14695192C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss534295 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs408308 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss534295	SC_JCM\|AC008915.4_75233		fwd/T	A/G	ctcacctggaatgctgttcctcaatctgga	tgctattccctagctctggaatgctgtctc	07/12/00	10/10/03	80	Genomic			unknown

Fasta sequence (Legend)

 TCACACcaca ggtgccctcg ctgtccccgt tcaatgcctc cgagcttctg cacgccttcc
 tcctgctatg cctttgcaaa tgctgttccc tcactctgga atgctgttcc tcactcTGGA
 GTGCTGTTCC CTCACCTGGA GTGCTGTTCC TTGCTCTGGA ATTCTGTTCT CTCACCTGGA
 ATGCTGTTCC TCAATCTGGA
 R
 tgctattccc tagctctgga atgctgtctc tgccccttcc cttcccctag aaacacatgc
 tcttccctca gatctcaacc agcatcactt cctccagaaa cgttctctga tggctcagac
 GAGGTGTCAG GGTCTTGGTT GTACACTTTC CTAGCCCCGG AACTTTCCTT CTGAGTACCT
 GCCTCATTTG TGTGATTGCT

GeneView

GeneView via analysis of contig annotation: SCNN1B sodium channel, nonvoltage-gated 1, beta

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_010393->NM_000336

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_010393->NM_000336->NP_000327	14695192	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs408308 maps exactly once on NCBI human chromosome 16

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
16	NW_001838400.2	89711	21470431	plus	G	alt_assembly_8	HuRef	HuRef	view	200
16	NW_926217.1	679582	22159378	minus	C	alt_assembly_1	Celera	Celera	view	200
16	NT_010393.15	14695192	23289614	minus	C	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
AC008915 AC025273

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail		Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	G/G	HWP	A	G
ss534295	CEPH		184	AF				1.000

	HapMap-CEU	European	118	IG	1.000			1.000

	HapMap-HCB	Asian	86	IG	1.000			1.000

	HapMap-JPT	Asian	90	IG	1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	IG	1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
		270	210	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 .