Reference SNP(refSNP) Cluster Report: rs3822191

Reference SNP(refSNP) Cluster Report: rs3822191

refSNP ID: rs3822191
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	107/129
Map to Genome Build:	36.3

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

HGVS Names
NM_001083.3:c.2189+658T>A
NM_033430.2:c.2063+658T>A
NM_033437.2:c.2033+658T>A
NT_016354.18:g.44976246A>T
XM_001717939.1:c.*-5046-5405A>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44570943 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3822191 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
ss5008642	YUSUKE\|IMS-JST183076	fwd/B	A/T	gagagactcatgttacaaggaaatcctgag	gtgattccctgactcccctcattcccacac	08/12/02	10/10/03	107	Genomic	unknown
ss44570943	ABI\|hCV9553239	fwd/	A/T	gagagactcatgttacaaggaaatcctgag	gtgattccctgactcccctcattcccacac	07/19/05	07/19/05	126	Genomic	unknown
ss78080833	HGSV\|Cor12878_SNV_20070510.chr4_120785704	fwd/	A/T	gagagactcatgttacaaggaaatcctgag	gtgattccctgactcccctcattcccacac	10/17/07	10/17/07	129	Genomic	unknown
ss78595693	HGSV\|Cor18507_SNV_20070510.chr4_120785704	fwd/	A/T	gagagactcatgttacaaggaaatcctgag	gtgattccctgactcccctcattcccacac	10/19/07	10/20/07	129	Genomic	unknown
ss81912578	HGSV\|Cor18956_SNV_20070510.chr4_120785704	fwd/	A/T	gagagactcatgttacaaggaaatcctgag	gtgattccctgactcccctcattcccacac	11/30/07	12/01/07	130	Genomic	unknown

Fasta sequence (Legend)

 AAAGGCATTG TGGTTACAGG TATTTTTCAA ATTCTTGGTA ATTTGATAAT CCTTATTCTG
 CAATTATTTT TAATAAACTG AAGTTTACTA TTAATATATA TTATTTTGTC TTAACCTCAA
 AATGCTCTAA AAACCAATTA AGTAGGCACA TGCAGTTACT TCTAGATGTA TAACAGTAGA
 TATCTGGCAG ATGTTTTTGT GTTTTTTCTA TGTGTTTTTA CTTCTCCTAA GAGTAACTAC
 AACCATGAAT GTGAATTCCT TACAGAGGGA GAGAGACTCA TGTTACAAGG AAATCCTGAG
 W
 GTGATTCCCT GACTCCCCTC ATTCCCACAC ATGCGTCAAA GATCTCAGCT AGGAGTTGGA
 AACTTATGAT TGCTCAAATG CAGGAAAGTA TTTTCTAGCT TTTAGAAAGG CAGTTTAATC
 ATGAAAATGC ATAATCACAG AGACAACTCT AATGTATACT CTTATTTTAG AATCAACAAC
 TTCAAAGTTC TACATAAATA TTCTTCTCCT GCCAAAATCA AATAAAAAGA AACAAGAGTT
 ACTTGCTTGG CAGTAACTCC TTTTCCTGCC CAACTAAGCT TGAATGACGG TATAAAGGAG

GeneView

GeneView via analysis of contig annotation: LOC645513 hypothetical LOC645513

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: PDE5A phosphodiesterase 5A, cGMP-specific

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_016354->XM_001717939

function

Celera

NW_922217->XM_001714854

function

reference

NT_016354->NM_001083

function

reference

NT_016354->NM_033430

function

reference

NT_016354->NM_033437

function

HuRef

NW_001838920->NM_001083

function

HuRef

NW_001838920->NM_033430

function

HuRef

NW_001838920->NM_033437

function

Celera

NW_922217->NM_001083

function

Celera

NW_922217->NM_033430

function

Celera

NW_922217->NM_033437

function

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


reference	NT_016354->XM_001717939->XP_001717991	44976246	forward	intron

Celera	NW_922217->XM_001714854->XP_001714906	65107	forward	intron

reference	NT_016354->NM_001083->NP_001074	44976246	reverse	intron

reference	NT_016354->NM_033430->NP_236914	44976246	reverse	intron

reference	NT_016354->NM_033437->NP_246273	44976246	reverse	intron

HuRef	NW_001838920->NM_001083->NP_001074	995705	reverse	intron

HuRef	NW_001838920->NM_033430->NP_236914	995705	reverse	intron

HuRef	NW_001838920->NM_033437->NP_246273	995705	reverse	intron

Celera	NW_922217->NM_001083->NP_001074	65107	reverse	intron

Celera	NW_922217->NM_033430->NP_236914	65107	reverse	intron

Celera	NW_922217->NM_033437->NP_246273	65107	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs3822191 maps exactly once on NCBI human chromosome 4

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
4	NW_001838920.1	995705	116149136	plus	A	alt_assembly_8	HuRef	HuRef	view	300
4	NW_922217.1	65107	117807628	plus	A	alt_assembly_1	Celera	Celera	view	300
4	NT_016354.18	44976246	120647549	plus	A	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
NT_006302.1

dbSNP Blast Analysis
GenBank HTGS Finished:
AC093752.2 NC_000004.10

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 .