Reference SNP(refSNP) Cluster Report: rs376145

Reference SNP(refSNP) Cluster Report: rs376145

refSNP ID: rs376145
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	80/129
Map to Genome Build:	36.3

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

HGVS Names
NM_006738.4:c.4745+1573G>C
NM_007200.3:c.4746-1177G>C
NT_010274.16:g.1166118G>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss81275665 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs376145 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
ss481103	SC_JCM\|AC007897.3_119356	fwd/B	C/G	gtgtaagaaggtattactgtgagctccatg	aggcagggactttgtcttgtttacctatct	07/12/00	10/10/03	80	Genomic	unknown
ss21250553	SSAHASNP\|WGSA-200403-chr15.chr15.NT_010274.15_1166118	rev/T	C/G	agataggtaaacaagacaaagtccctgcct	catggagctcacagtaataccttcttacac	03/19/04	03/19/04	121	Genomic	unknown
ss40577830	ABI\|hCV1151923	rev/	C/G	agataggtaaacaagacaaagtccctgcct	catggagctcacagtaataccttcttacac	07/17/05	07/17/05	126	Genomic	unknown
ss81275665	HGSV\|Cor18507_SNV_20070510.chr15_84001595	rev/	C/G	agataggtaaacaagacaaagtccctgcct	catggagctcacagtaataccttcttacac	11/26/07	11/28/07	130	Genomic	unknown
ss90236887	BCMHGSC_JDW\|JWB-0887742	rev/	C/G	agataggtaaacaagacaaagtccctgcct	catggagctcacagtaataccttcttacac	02/26/08	02/29/08	129	Genomic	unknown

Fasta sequence (Legend)

 ACTGGGAAAT TACTTTTTAT AAAATCTAGG GTCTCAAACG TATATAAAAA CAAGCTAGCA
 GAAAAAGCAT GCTGCTTATT TTTAAGGTTA GCATCCTACA TGCCACCATA GAATAATATG
 GAATTATAGA AACGGCATTT GACTAAGAGA CCAGAGACCT TGGATAAATG ATGCAAACTA
 CCTGCACCAG TCTTCTCATC TGCAAACATG GGGATAATAC CACTCGACTC ATGGAGAGGA
 CTGAAAAATT ATATCAGAAA TGTGTTATAA AGAGAGTCTG AAAAGATTAG CAAATTAGGA
 AAGTGTAAGA AGGTATTACT GTGAGCTCCA TG
 S
 AGGCAGGGAC TTTGTCTTGT TTACCTATCT CCAGAACCTA GAGCAGAGTC TGGCACATAG
 TGAGTGTTCA ATATATGTTG GCTGAATAAA TAAGTGAATG AATGTGATTA CACAGCCATA
 ATATTATCAG GAGGTTGAGA AATTTGAGCA AATAATTGCT ATTGCTGAGC TGTTTACATC
 AATTATTATT ATTACTACTA TTATTATTAT TATTTTGAGA CAGGGTCTCA CTGTTGCCCA
 GACTGGAGTG CAGTGGTATG ATCATGGCTC ACTGCAGCCT CGAACTTCTG GGCTGAAGCA
 ATCCTCCCAT CTCATCCTCT CGAGTAGCTG GGACCACAGG CATGTACTAC CATGCGCGGC
 TGTTTTCTTT TTTGTAGAGA TGGGGTCTCC TATGTTGCAT AGGCTGGTCT CAAACTCCTG
 GGCTCATGAG ATTACATCAA TTGTTTTAAA ACAACTGTCA GCCTCATCCC TTATCTGTTT
 TACTTATTAG CAAAGTAGCT

GeneView

GeneView via analysis of contig annotation: AKAP13 A kinase (PRKA) anchor protein 13

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_010274->NM_006738

function

reference

NT_010274->NM_007200

function

HuRef

NW_001838222->NM_006738

function

HuRef

NW_001838222->NM_007200

function

Celera

NW_925940->NM_006738

function

Celera

NW_925940->NM_007200

function

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


reference	NT_010274->NM_006738->NP_006729	1166118	forward	intron

reference	NT_010274->NM_007200->NP_009131	1166118	forward	intron

HuRef	NW_001838222->NM_006738->NP_006729	1114950	forward	intron

HuRef	NW_001838222->NM_007200->NP_009131	1114950	forward	intron

Celera	NW_925940->NM_006738->NP_006729	1093223	forward	intron

Celera	NW_925940->NM_007200->NP_009131	1093223	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs376145 maps exactly once on NCBI human chromosome 15

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
15	NW_001838222.1	1114950	62262987	minus	G	alt_assembly_8	HuRef	HuRef	view	279
15	NW_925940.1	1093223	62600403	minus	G	alt_assembly_1	Celera	Celera	view	279
15	NT_010274.16	1166118	84001595	minus	G	ref_assembly	reference	reference	view	279

NCBI Resource Links

Submitter-Referenced
GenBank
NT_010274 AC022221

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC087286.12 NC_000015.8	AC007897.4 AC022221.5 AC026840.4 AC068402.2

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
	UNKNOWN	UNKNOWN	UNKNOWN

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Revised: May 25, 2006 1:38 PM .