Reference SNP(refSNP) Cluster Report: rs1807012

Reference SNP(refSNP) Cluster Report: rs1807012

refSNP ID: rs1807012
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	92/129
Map to Genome Build:	36.3

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

HGVS Names
NM_198075.2:c.326+1597A>G
NT_035113.6:g.486377A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss17418843 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1807012 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
ss2669931	TSC-CSHL\|TSC0021538	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	01/03/01	10/10/03	92	Genomic	unknown
ss3002417	TSC-CSHL\|TSC1304737	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	06/07/01	10/10/03	106	Genomic	unknown
ss5319465	TSC-CSHL\|TSC1611988	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	09/20/02	10/10/03	108	Genomic	unknown
ss6119310	SC_JCM\|NT_008953.9_37930	rev/B	C/T	tttagtagagacggggtttcaccatgttag	cagtatggtctcaatctcctgacctcgtga	01/10/03	10/10/03	126	Genomic	unknown
ss17418843	CSHL-HAPMAP\|CSHL-HuCC-200402.chr11.NT_035113.5_486376	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	02/19/04	03/04/04	120	Genomic	unknown
ss19197183	CSHL-HAPMAP\|CSHL-HuDD-200402.chr11.NT_035113.5_486376	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	02/20/04	03/04/04	120	Genomic	unknown
ss20835758	SSAHASNP\|WGSA-200403-chr11.chr11.NT_035113.5_486376	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	03/19/04	03/19/04	121	Genomic	unknown
ss39982380	ABI\|hCV27010045	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	07/16/05	07/16/05	126	Genomic	unknown
ss77165216	HGSV\|Cor12156_SNV_20070510.chr11_536377	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	10/09/07	10/11/07	129	Genomic	unknown
ss84367857	HGSV\|Cor18517_SNV_20070510.chr11_536377	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	12/06/07	12/07/07	130	Genomic	unknown
ss88424410	BCMHGSC_JDW\|JWB-0361596	fwd/T	A/G	tcacgaggtcaggagattgagaccatactg	ctaacatggtgaaaccccgtctctactaaa	02/26/08	02/27/08	129	Genomic	unknown

Fasta sequence (Legend)

 ACATCTAGTT ATTTCCAGAT GAGGATAAGG GTATTCATTA AGCAACCTCT CTTTGAATGT
 TTTCTTGATT TTCCTTATTT GTACTTCTGT TTATCAAACA AATATCAAAA TGggccgggc
 acggtgtctc acgcctataa tcccagaact ttgggaggcc gaggtgggca gatcacctga
 ggtcaggagt tcgagaccag cctgaccaac atggagaaat cccatctcta ctaaaaatac
 aaaattagcc gtgcatggtg gcacatgcct gtaaccccag ctgctcagga ggctgaggca
 ggagagtcgc tgcagtgagc cgggaggcag atgctgcagt gagctgagat cacaccacta
 cactccagcc ggggcaacag agcgaaactc tgcctcaaaa aaataaaGTA ggccaggcac
 agtggttcac gcctgtaatc ccagtacttt gggaggccaa ggtaggcaga tcacgaggtc
 aggagattga gaccatactg
 R
 ctaacatggt gaaaccccgt ctctactaaa aatacaaaaa attagccggg cgtggtggtg
 ggcgcctgta gtcccagcta ctcgggaggc tgaggcagga aaatggcgtg aacccaggag
 gcggagcttg cagtgagcca agatcgcacc actaaactcc agcctgggcg actgagtgag
 acttcgtctc aaaaaaaaaa aaaTACATGA AGATCTGGAA ATGGAAGAAA GTTGGAAAAC
 ACTTTGGGGT CAAAGACACA GTGGGCAGCC CACAGAACTG GAACAGAGAG GGGCCTGGAC
 ATGAAGTCAG GCCTGCAGCA GGCACCCAGA CGACACCGCG AACGAGAAAC TAGGATGGGT
 TTGGAAAATG GACTTCTTAG AAACATGTCT CCCagccagg cgggttggct cacacctgta
 atcccaacac tttgggaggc caaggcaggc ggatcacgag gtcaggagtt caagatccgc
 ctggctaacg tggtgaaaAC

GeneView

GeneView via analysis of contig annotation: LRRC56 leucine rich repeat containing 56

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_198075

function

HuRef

NW_001838016->NM_198075

function

Celera

NW_924962->NM_198075

function

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


reference	NT_035113->NM_198075->NP_932341	486377	forward	intron

HuRef	NW_001838016->NM_198075->NP_932341	186907	forward	intron

Celera	NW_924962->NM_198075->NP_932341	188593	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1807012 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	186907	361053	plus	A	alt_assembly_8	HuRef	HuRef	view	500
11	NT_035113.6	486377	536377	plus	A	ref_assembly	reference	reference	view	500
11	NW_924962.1	188593	608837	plus	G	alt_assembly_1	Celera	Celera	view	500

NCBI Resource Links

Submitter-Referenced
GenBank
NT_035113

dbSNP Blast Analysis
GenBank HTGS Finished:
AC138374.2 AP006284.2 NC_000011.8

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 .