Reference SNP(refSNP) Cluster Report: rs4307164

Reference SNP(refSNP) Cluster Report: rs4307164

refSNP ID: rs4307164
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	111/129
Map to Genome Build:	36.3

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

HGVS Names
NM_000947.2:c.1304G>A
NP_000938.2:p.G435D
NT_007592.14:g.48370706G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss7883664 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4307164 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
ss5709409	SC_JCM\|NT_007592.10_48315249	fwd/T	A/G	gcaatataaatttccttcctttacaggtgg	tgattgtggcttttctttgaatcatcctaa	01/10/03	10/10/03	111	Genomic	unknown
ss7883664	DEVINE_LAB\|DB_1_236285	fwd/T	A/G	gcaatataaatttccttcctttacaggtgg	tgattgtggcttttctttgaatcatcctaa	03/16/03	10/10/03	113	Genomic	96 %
ss11797250	WI_SSAHASNP\|chr6.NT_007592.13_48309584	fwd/T	A/G	gcaatataaatttccttcctttacaggtgg	tgattgtggcttttctttgaatcatcctaa	07/04/03	10/10/03	116	Genomic	unknown
ss12815566	SC_SNP\|NT_007592.13_48309584	fwd/T	A/G	gcaatataaatttccttcctttacaggtgg	tgattgtggcttttctttgaatcatcctaa	10/21/03	10/31/03	119	Genomic	unknown
ss28510231	MGC_GENOME_DIFF\|BC064931x29804415-G48309584A	fwd/T	A/G	gcaatataaatttccttcctttacaggtgg	tgattgtggcttttctttgaatcatcctaa	08/25/04	08/25/04	126	cDNA	unknown
ss93471033	BCMHGSC_JDW\|JWB-2148349	fwd/T	A/G	gcaatataaatttccttcctttacaggtgg	tgattgtggcttttctttgaatcatcctaa	02/26/08	03/04/08	129	Genomic	unknown

Fasta sequence (Legend)

 CTAGTATGCC CCAAGGATGA ATGGTGATAC CAGTCACTGA GAGCAAAGGA TGGGGAGAGG
 GGAAAGGATA CGTTTCCTGT TGGGTTTGAG CTGCCTTTGA GCCATCTTAG ATGTTGAGTA
 GGTGTTGGAT ATGGGACTGA AACTAGATAG GGAACTGGAG CCAAACACAG AGGCTCAGAC
 TAGAAATATA AATGTGGGAG CCATTTAGGT TTGGGTAGTG GTTGAAGCTC TCTTTGAATG
 AAATGGTGTA AGTAGCTGAT TAAGCGTTAG AATGCAAACA GCTAGAATCC ATGTTTCAGG
 TATTAAGTTT TAAACAAGTA CTAAAACAGC TTTTGAAACT CATATATTTA TAGCTTTGCC
 ATGTATTAAT GCAATATAAA TTTCCTTCCT TTACAGGTGG
 R
 TGATTGTGGC TTTTCTTTGA ATCATCCTAA TCATTTCTTT TGTGAGAGCC AACGTATTCT
 AAATGGTGGT AAAGACATAA AGAAGGAATC TATCCAACCA GAAACTCCTC AACCCAAACC
 AAGTGTCCAG AAAACCAAGG ATGCATCATC TGCTCTGGCC TCTTTAAATT CCTCTCTGGA
 AATGGATATG GAAGGACTAG AGGATTACTT TAGTGAAGAT TCTTAGGCAG TTTTGTAACC
 CTTTTTCCTC AATAGCCTGt ttcctgtttt taagattttg cctttgttgt tgaaaaagtg
 ttgcactctg ttgtgtaatt gtgacacaat tacagctgat tgcagcctca accttcccag
 ctcaagtgat cctcctacct cagcctccca agtagttggg

GeneView

GeneView via analysis of contig annotation: PRIM2 primase, DNA, polypeptide 2 (58kDa)

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_007592->NM_000947

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos


reference	NT_007592->NM_000947->NP_000938	48370707	forward	1391	missense	A	Asp [D]	2	435
					contig reference	G	Gly [G]	2	435

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs4307164 maps exactly once on NCBI human chromosome 6

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
6	NW_922907.1	30782	715313	plus	G	alt_assembly_1	Celera	Celera	view	400
6	NT_007592.14	48370707	57620435	plus	G	ref_assembly	reference	reference	view	400
6	NW_001838984.1	650626	58439290	plus	G	alt_assembly_8	HuRef	HuRef	view	400

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007592.10 BC064931

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank HTGS Finished:
NM_000947.2	AL137184.15

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 .