Reference SNP(refSNP) Cluster Report: rs9928077

Reference SNP(refSNP) Cluster Report: rs9928077

refSNP ID: rs9928077
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	119/129
Map to Genome Build:	36.3

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

HGVS Names
NM_022493.1:c.546G>A
NP_071938.1:p.A182A
NT_037887.4:g.724765C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48420322 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9928077 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
ss13766949	BCM_SSAHASNP\|chr16.NT_037887.3_724766	fwd/B	C/T	acctgggcaggcagaggccagcaggggcag	gcctgtctgcagtcggcctgtcctcggaat	11/05/03	11/22/03	119	Genomic	unknown
ss48420322	APPLERA_GI\|hCV25933024	rev/T	A/G	attccgaggacaggccgactgcagacaggc	ctgcccctgctggcctctgcctgcccaggt	09/28/05	11/03/06	126	Genomic	unknown
ss75121264	ILLUMINA\|ILMN_Human_1M_rs9928077	fwd/B	C/T	acctgggcaggcagaggccagcaggggcag	gcctgtctgcagtcggcctgtcctcggaat	08/28/07	08/29/07	129	Genomic	unknown

Fasta sequence (Legend)

 AAAGAGTGCT CATTCCTGTT CTCCCCACCA CCACGCGGAG CTCGGCGTGC AGGCGACACC
 GCCTAGGGAC CTGAGGTGAC TGCGCGTGGC TCCCACGGGA GGGCAGCCTC TTCTCCAGAA
 AAGGCCATTT GTGCCAACAT TTCCAACCCG TCCCGCAAAA CCTGCTTGCG TCTCCACCCC
 CCATGCCCCC GCCTTGTCAT TTGTGTCCAT ATCACCTCAC GTTTCAACTG CACTTGAACT
 TGACTCTCCC ACCACCCGCA CCATGAGCAC ACCTGGGCAG GCAGAGGCCA GCAGGGGCAG
 Y
 GCCTGTCTGC AGTCGGCCTG TCCTCGGAAT CGCCGCACAA ACTCTCGCTG GCTCTCCAGG
 AGGCTGAAGT GCCTTGAGAA GGCGGTGTCG AAGACGAAGT GCACCCCTGG AAGGTGAAGG
 TGGGTGCCTG GTTAACCCCA TGCGGGACGC CCACACGAGC ACACGCCGGC GTGTGGACCA
 CCATGGTGCT GCCAGGGCAC GTGTGTCGCA CCTGCTTGCC GTGCCAAAGC CCCGGCCCCA
 CCGTGGGGAC CTCCTAAAGC CACGTTGCGC CAAAGCCCCA GCCCCACTGT GGGGACCTCC

GeneView

GeneView via analysis of contig annotation: NARFL nuclear prelamin A recognition factor-like

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_037887->NM_022493

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos


reference	NT_037887->NM_022493->NP_071938	724766	reverse	558	synonymous	A	Ala [A]	3	182
					contig reference	G	Ala [A]	3	182

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs9928077 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_001838339.2	1917664	706353	minus	G	alt_assembly_8	HuRef	HuRef	view	300
16	NT_037887.4	724766	724766	plus	C	ref_assembly	reference	reference	view	300
16	NW_926018.1	700580	984930	plus	C	alt_assembly_1	Celera	Celera	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_037887

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank HTGS Finished:
NM_022493.1	Z98258.1

UniGene Cluster ID
513247

3D structure mapping
NP_071938

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	T/T	HWP	C	T
ss48420322	AGI_ASP population	multiple	78	IG	0.641	0.333	0.026	0.655	0.808	0.192

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.311+/-0.243	39	39	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

UNKNOWN

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Revised: May 25, 2006 1:38 PM .