Reference SNP(refSNP) Cluster Report: rs186802

Reference SNP(refSNP) Cluster Report: rs186802

refSNP ID: rs186802
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	79/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_006503.2:c.1144-136C>T
NM_153001.1:c.1051-136C>T
NT_011109.15:g.12755181C>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss1977328 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs186802 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
ss247342	KWOK\|OVLP-000621-325660	fwd/B	C/T	tttgtattttttgtagagacagggtttcac	atgttgcccaggctggtctcgaactcttgg	06/30/00	10/10/03	79	Genomic	89 %
ss1281881	KWOK\|OVLP-000804-329970	fwd/B	C/T	tttgtattttttgtagagacagggtttcac	atgttgcccaggctggtctcgaactcttgg	09/02/00	10/10/03	86	Genomic	89 %
ss1977328	KWOK\|OVLP-000925-171192	fwd/B	C/T	tttgtattttttgtagagacagggtttcac	atgttgcccaggctggtctcgaactcttgg	10/06/00	10/10/03	87	Genomic	89 %

Fasta sequence (Legend)

 AGATTTCAGG AGCTGATATT AACTCCATCT GTCAGGAGGT AAGTGGTGGT TTCTCTCTGG
 ATCCAGGCAG CGGGTGTGTG AGGACCCTTC TTCTCTGAAC CACTCTGCTG CAGTCCTGTC
 CCCTCATGGC TGCCCTGGGT CGTGGGCGCC ATCTCTCTCT TCCTCTACCA TCACTAGGGG
 TGGATAGTAC AGGGGTAGTG tttttgtgtt ttgctttgag acagggactc actctgtcgc
 ccaggctgga gtgcagtggg gcaatcatga ctcactgcag tgatcctccc acctcagcct
 cccaagtagc tgggattaca ggcgcccacc accagtctgg ctaatttttg tattttttgt
 agagacaggg tttcac
 Y
 atgttgccca ggctggtctc gaactcttgg gctcaagtga tctgtatacc tcagcctccc
 aaagtgtcgg gattacaggt gtgagccact gtgccctgcc ACAGGAAGTA GATTTTAACT
 CTCATCCTTC AACAGAGTGG AATGTTGGCT GTCCGTGAAA ACCGCTACAT TGTCCTGGCC
 AAGGACTTCG AGAAAGCATA CAAGACTGTC ATCAAGAAGG ACGAGCAGGA GCATGAGTTT
 TACAAGTGAC CCTTCCCTTC CCTCCACCAC ACCACTCAGG GGCTGGGGCT TCTCTCGCA

GeneView

GeneView via analysis of contig annotation: PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4

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_011109->NM_006503

function

reference

NT_011109->NM_153001

function

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


reference	NT_011109->NM_006503->NP_006494	12755181	forward	intron

reference	NT_011109->NM_153001->NP_694546	12755181	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs186802 maps exactly once on NCBI human chromosome 19

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
19	NW_001838496.1	2689801	36923427	plus	C	alt_assembly_8	HuRef	HuRef	view	376
19	NW_927217.1	2692105	37285334	plus	C	alt_assembly_1	Celera	Celera	view	376
19	NT_011109.15	12755181	45178803	plus	C	ref_assembly	reference	reference	view	376

NCBI Resource Links

Submitter-Referenced
GenBank
AC007842.1 AL158034.2 AL158034.4

dbSNP Blast Analysis
GenBank HTGS Draft:
AL513183.5

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
	UNKNOWN	UNKNOWN	UNKNOWN

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Revised: May 25, 2006 1:38 PM .