Reference SNP(refSNP) Cluster Report: rs2650621

Reference SNP(refSNP) Cluster Report: rs2650621

refSNP ID: rs2650621
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	100/129
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_015092.3:c.8792+1222A>G
NT_010393.15:g.10156119T>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss12347576 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2650621 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
ss3736719	SC_JCM\|AC026472.3_166954	fwd/T	A/G	gagtcttgctgtgtcgctaggctggagtgc	atggtgcgatctcggctcgctgcagcctcc	09/25/01	10/10/03	100	Genomic	unknown
ss12347576	WI_SSAHASNP\|chr16.NT_010393.13_10116258	rev/B	C/T	ggaggctgcagcgagccgagatcgcaccat	gcactccagcctagcgacacagcaagactc	07/04/03	10/10/03	116	Genomic	unknown
ss40710790	ABI\|hCV26770770	rev/B	C/T	ggaggctgcagcgagccgagatcgcaccat	gcactccagcctagcgacacagcaagactc	07/17/05	07/17/05	126	Genomic	unknown

Fasta sequence (Legend)

 AGTTATTTAG AAGCAAATAT TTTTTCATTC TTAAATATTA ATAATGCAGA AAGTATACAT
 ATATATGTAA TCTTATTTTT CTTGACTGTG GTGCCATTAT TTCATGAAAA AAGTAGCAAT
 AATTCCTTAA TGTTAATTAT CCTGCATTCA GAAATTTCCT GTTTCTCATG TTTCTTTGGA
 GTGGTTATAT TCATAAAATA ataaatatat tcatatatat tcataaatat gtacgtgtgt
 gtgtatatat atatatatat gtattttttt tttttttttt gagatggagt cttgctgtgt
 cgctaggctg gagtgc
 R
 atggtgcgat ctcggctcgc tgcagcctcc atctcccggg ttcaagagat tctcctggct
 cagcctccct agtagctggg actatggacg tatgccccca tgcccggcta GAAAAAGTAT
 AATCATTAAT AGCATAAATA TTAGATTATT TATAGAACAG CTTTATCATA TAATTTTTAG
 CAGTATTTAA AAAGTTAAAT GCTAGATCTG TACATCTTTG TTTTGCACTG AATTTCAGAC
 TTCATTTTAT CTCTCTTAAT ATCTTATCTG GGTTCCCCTT ATCCTCATAC AGAGGAATGT
 TTACCTAAAT

GeneView

GeneView via analysis of contig annotation: SMG1 PI-3-kinase-related kinase SMG-1

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_015092

function

HuRef

NW_001838381->NM_015092

function

Celera

NW_926151->NM_015092

function

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


reference	NT_010393->NM_015092->NP_055907	10156119	reverse	intron

HuRef	NW_001838381->NM_015092->NP_055907	72280	reverse	intron

Celera	NW_926151->NM_015092->NP_055907	91030	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs2650621 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_001838381.1	72280	17379504	minus	C	alt_assembly_8	HuRef	HuRef	view	316
16	NW_926151.1	91030	17990895	minus	T	alt_assembly_1	Celera	Celera	view	316
16	NT_010393.15	10156119	18750541	minus	T	ref_assembly	reference	reference	view	316

NCBI Resource Links

Submitter-Referenced
GenBank
NT_010393 AC020716 AC025289

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC020716.3 AC025289.6 AC026472.8 NC_000016.8	AC126764.2 AC136617.1 AC139267.1 AC139469.2 AC141079.1

Population Diversity

There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .