Reference SNP(refSNP) Cluster Report: rs1128419

Reference SNP(refSNP) Cluster Report: rs1128419

refSNP ID: rs1128419
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	86/129
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_012305.2:c.*125G>A
NT_035113.6:g.950750G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss38730808 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1128419 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
ss1515732	LEE\|174267	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	09/13/00	10/10/03	86	cDNA	unknown
ss4408503	LEE\|e174267	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	04/26/02	10/10/03	108	cDNA	unknown
ss10649621	BCM_SSAHASNP\|chr11.NT_035113.4_133214	rev/B	C/T	tccagcccaaaggggagaggtgtggggcgg	ggggcggggaggcgccttgtgctgtggcac	06/29/03	10/10/03	116	Genomic	unknown
ss15507682	SC_SNP\|NT_035113.5_956900	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	11/14/03	11/22/03	120	Genomic	unknown
ss16225113	CGAP-GAI\|1457798	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	11/18/03	11/22/03	120	cDNA	unknown
ss24814719	SEQUENOM\|sqnm207883	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	06/18/04	06/18/04	123	cDNA	unknown
ss38730808	ABI\|hCV7438679	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	07/16/05	07/16/05	126	Genomic	unknown
ss77279667	HGSV\|Cor12156_SNV_20070510.chr11_1000750	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	10/09/07	10/12/07	129	Genomic	unknown
ss88426094	BCMHGSC_JDW\|JWB-0362258	fwd/T	A/G	gtgccacagcacaaggcgcctccccgcccc	ccgccccacacctctcccctttgggctgga	02/26/08	02/27/08	129	Genomic	unknown

Fasta sequence (Legend)

 CCTGGGCATG GCCCACAGGG TTCTGCATGG CGGATCCTGG ACCCGAGGGC TGTGTGAGCC
 TCGGCGTGCC CGTTGACCTG CTGTGCTCTC TGTTTCAGAT GTACCGGCTC ACGCTGCGCA
 CAAGTAAGGA AGCCGTTTCT CAGAGATTAT GTGAATTGCT CTCAGCGCAG TTTTAGTCCT
 GAGGATGGAA GACCAGGCTC GTGTGTCTTG TGTTGTCTTC GTCTGTGCCG TTTGTCTTCG
 TGGCCATCCT GCAGATGAGC ACCGTGTCCA GTGCCACAGC ACAAGGCGCC TCCCCGCCCC
 R
 CCGCCCCACA CCTCTCCCCT TTGGGCTGGA CGGGAACACA CGTGTGTGGC TCAGGAGGAA
 AAGCTCAGCC TGGACTGTGG CAGCCACGGC AGAAGGTGGA TCTTGGGATC AATTTTTATA
 AAAATCGAGA CAGTTCTGTG GTTAAATCTA CAAATTAAAG GGAAATTAGA AGTTGGCGTG
 AACGTGGCGT TTGTGGGAGT GTCACTGAGA TGGCCCGTGC TGCCGCCCAC CCCGCCTCGG
 AGCCTCTGGG AGCAGCAGTG CCACTGTGCA TGGCGTGGGC TGAGCCTTGG TGTGTGGCCG

GeneView

GeneView via analysis of contig annotation: AP2A2 adaptor-related protein complex 2, alpha 2 subunit

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_035113->NM_012305

function

HuRef

NW_001838016->NM_012305

function

Celera

NW_924962->NM_012305

function

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


reference	NT_035113->NM_012305->	950750	forward	3126	3' UTR

HuRef	NW_001838016->NM_012305->	652766	forward	3126	3' UTR

Celera	NW_924962->NM_012305->	658901	forward	3127	3' UTR

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1128419 maps exactly once on NCBI human chromosome 11

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
11	NW_001838016.1	652766	826912	plus	G	alt_assembly_8	HuRef	HuRef	view	300
11	NT_035113.6	950750	1000750	plus	G	ref_assembly	reference	reference	view	300
11	NW_924962.1	658901	1079145	plus	G	alt_assembly_1	Celera	Celera	view	300

NCBI Resource Links

Submitter-Referenced
dbSTS	GenBank
sqnm207883	NT_035113 BQ690496 Hs.19121

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC083984.7 AP006477.2 NC_000011.8	AC137686.3 AC196507.1 AC208587.3

UniGene Cluster ID
19121

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 .