Reference SNP(refSNP) Cluster Report: rs1203747

Reference SNP(refSNP) Cluster Report: rs1203747

refSNP ID: rs1203747
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	87/129
Map to Genome Build:	36.3

Allele
Variation Class:	MIXED: cluster contains submissions from 2 or more alleleic classes
RefSNP Alleles:	-/C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_018026.2:c.357-43806G>A
NT_033903.7:g.11222946G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss1723988 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1203747 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
ss1723988	KWOK\|OVLP-000925-179686	fwd/B	C/T	aaaacacacacacacacacacacacacaca	gaacacaagatgtggaatggatgtagaaag	10/05/00	10/10/03	87	Genomic	97 %
ss1724278	KWOK\|OVLP-000925-185444	fwd/B	C/T	aaaacacacacacacacacacacacacaca	gaacacaagatgtggaatggatgtagaaag	10/05/00	10/10/03	89	Genomic	97 %
ss2463328	SC_JCM\|AC008102.17_21444	fwd/B	C/T	aacacacacacacacacacacacacacaca	gaacacaagatgtggaatggatgtagaaag	11/03/00	10/10/03	103	Genomic	unknown
ss15980665	SC_SNP\|NT_033903.6_11090193	rev/T	A/G	ctttctacatccattccacatcttgtgttc	tgtgtgtgtgtgtgtgtgtgtgtgtgtttt	11/18/03	11/22/03	120	Genomic	unknown
ss39922436	ABI\|hCV26899157	rev/	-/A/G	ctttctacatccattccacatcttgtgttc	tgtgtgtgtgtgtgtgtgtgtgtgtgtttt	07/16/05	07/16/05	126	Genomic	unknown
ss77577800	HGSV\|Cor12156_SNV_20070510.chr11_65673727	rev/T	A/G	ctttctacatccattccacatcttgtgttc	tgtgtgtgtgtgtgtgtgtgtgtgtgtttt	10/09/07	10/13/07	129	Genomic	unknown
ss88622133	BCMHGSC_JDW\|JWB-0435973	rev/B	G/T	ctttctacatccattccacatcttgtgttc	tgtgtgtgtgtgtgtgtgtgtgtgtgtttt	02/26/08	02/27/08	129	Genomic	unknown

Fasta sequence (Legend)

 AGAACGTATG TCAGTGGATC AAATAACTGT ATATAGATTA CTGTATTGGA TTCCAATTGC
 TGTAGAGAAT AATTACTATT TTATATGTCT TTAATAAAGT ATAAATATTC ACAGATGGTC
 TGTTATGTGC AAAGCACTAT ATGATAGGAA TAGAGAGAGG GGATGTGGGG GAGAAATTGA
 ACAAATATGA ATAAGATCAG TTTTggccga gcgtggtggc tcaagcctgt aatcccagca
 ctttgggagg ctgagacggg tggattgcct gaggtggcaa gttcgagacc agcctgacta
 acatggagaa accccatctc tactaaaaat acaaaattag ccaggtgtgg tggtgcatgc
 ctgtaatccc agctactcag gaggctgagg caggagaatt gcttgaacct gggaggcaga
 ggttgcagtg agccgagatc atgccactgc actccagtct gggcaacaag agcgaaactc
 cgtctcaaaa aaaaGATCAG TTTTGCCCCC CAAAGATCTT ATAATGTACT GAACAGACAT
 GTAAAacaca cacacacaca cacacacaca ca
 N
 gaacacaAGA TGTGGAATGG ATGTAGAAAG TGCTGTTTAT AGACCGGGTA CTTGATTTCA
 TCTCACGATT TCAAATACAA AGTTAATGTT ATGCTATGAG CTACTTTTTA AAATGTGTAT
 GTTTATAAAA TATTTGTTTT TAAAGTAATA GTTTGAAAAG TAGAAAAAGT AGAAACACAC
 AGTAGGAAAA AAACCTCTTA TTTTGGAAAT ATATAATAAA GTGGAACAAT CCTATAAATC
 GCCAGAGAAG ATCACTATTA AAAGGCTG

GeneView

GeneView via analysis of contig annotation: PACS1 phosphofurin acidic cluster sorting protein 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_033903->NM_018026

function

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


reference	NT_033903->NM_018026->NP_060496	11222946	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs1203747 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_001838025.2	3160076^3160077	62242809^62242810	plus	-	alt_assembly_8	HuRef	HuRef	view	569..572
11	NW_925106.1	11589935	63241859	minus	A	alt_assembly_1	Celera	Celera	view	572
11	NT_033903.7	11222946	65673727	minus	G	ref_assembly	reference	reference	view	572

NCBI Resource Links

Submitter-Referenced
GenBank
NT_033903 AP000822 AP000822.2 AP001812.2

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AP000822.3	AP001812.2

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

UNKNOWN

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Revised: May 25, 2006 1:38 PM .