Reference SNP(refSNP) Cluster Report: rs306103

Reference SNP(refSNP) Cluster Report: rs306103

refSNP ID: rs306103
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:	A/G
Ancestral Allele:	G
Clinical Association:	unknown

HGVS Names
NM_001744.3:c.162-47528T>C
NT_034772.5:g.13047207T>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss500471 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs306103 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
ss394016	KWOK\|OVLP-000621-225917	fwd/T	A/G	aatttaaataaatgtaaaaaatcaactgac	gcaaagattaaagtttgctatctgcccctt	06/30/00	10/10/03	79	Genomic	99 %
ss500471	SC_JCM\|AC013744.3_124920	fwd/T	A/G	aatttaaataaatgtaaaaaatcaactgac	gcaaagattaaagtttgctatctgcccctt	07/12/00	10/25/06	80	Genomic	unknown
ss1123267	KWOK\|OVLP-000804-327974	fwd/T	A/G	aatttaaataaatgtaaaaaatcaactgac	gcaaagattaaagtttgctatctgcccctt	09/02/00	10/10/03	86	Genomic	99 %
ss2036401	KWOK\|OVLP-000925-732810	fwd/T	A/G	aatttaaataaatgtaaaaaatcaactgac	gcaaagattaaagtttgctatctgcccctt	10/06/00	10/10/03	87	Genomic	99 %
ss22238772	SSAHASNP\|WGSA-200403-chr5.chr5.NT_034772.5_13047207	rev/B	C/T	aaggggcagatagcaaactttaatctttgc	gtcagttgattttttacatttatttaaatt	03/21/04	03/21/04	121	Genomic	unknown
ss77241359	HGSV\|Cor12156_SNV_20070510.chr5_110660093	rev/B	C/T	aaggggcagatagcaaactttaatctttgc	gtcagttgattttttacatttatttaaatt	10/09/07	10/12/07	129	Genomic	unknown
ss82248684	HGSV\|Cor18956_SNV_20070510.chr5_110660093	rev/B	C/T	aaggggcagatagcaaactttaatctttgc	gtcagttgattttttacatttatttaaatt	11/30/07	12/02/07	130	Genomic	unknown
ss84696029	HGSV\|Cor18517_SNV_20070510.chr5_110660093	rev/B	C/T	aaggggcagatagcaaactttaatctttgc	gtcagttgattttttacatttatttaaatt	12/06/07	12/07/07	130	Genomic	unknown

Fasta sequence (Legend)

 CCACTTTCAG TTACTGATTC CTTTTCACCC TAAGCCCAAT TTCTTTCAAG CCACGGGTTA
 TTTGTCTATC TATACTCATT TATAGAGTTG TCCTATTTAT ATGAATATTT GGCAAATTAT
 TTTTGGTAGA ACATACTTAT TTGATAAAAC AATCATAGAA TGCAAATGCA AATTTAAATA
 AATGTAAAAA ATCAACTGAC
 R
 GCAAAGATTA AAGTTTGCTA TCTGCCCCTT TTAAAAAGAT TTGCCAAACC AGGAGTTAAT
 TTTATTTTTT GTAACCCAAA CATTCATCCC TAATGAACCA AGCATTCTTG ATTATGACTT
 CTATAATATA AATGCCAACT AAGAAAACTT TCCAGACTTT TCCTGAGTAA TGGAATATAG
 GGGTGTTATT AACAGACTTG

GeneView

GeneView via analysis of contig annotation: CAMK4 calcium/calmodulin-dependent protein kinase IV

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_034772->NM_001744

function

HuRef

NW_001838952->NM_001744

function

Celera

NW_922751->NM_001744

function

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


reference	NT_034772->NM_001744->NP_001735	13047207	forward	intron

HuRef	NW_001838952->NM_001744->NP_001735	28165468	reverse	intron

Celera	NW_922751->NM_001744->NP_001735	11199288	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs306103 maps exactly once on NCBI human chromosome 5

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
5	NW_001838952.2	28165468	105811240	plus	G	alt_assembly_8	HuRef	HuRef	view	200
5	NW_922751.1	11199288	106578117	minus	C	alt_assembly_1	Celera	Celera	view	200
5	NT_034772.5	13047207	110660093	minus	T	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_034772 AC010275 AC013744.3

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC008709.6 AC010275.6 NC_000005.8	AC013744.3

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss500471	HapMap-CEU	European	120	IG	0.150	0.850	0.584	0.075	0.925

	HapMap-HCB	Asian	90	IG	0.089	0.911	1.000	0.044	0.956

	HapMap-JPT	Asian	90	IG	0.178	0.822		0.089	0.911

	HapMap-YRI	Sub-Saharan African	120	IG		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.095+/-0.196	270	210	0	0

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 .