Reference SNP(refSNP) Cluster Report: rs45483102

Reference SNP(refSNP) Cluster Report: rs45483102

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	127/130
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/T
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_001136112.1:c.96A>T
NM_004347.3:c.57A>T
NP_001129584.1:p.Lys32Asn
NP_004338.3:p.Lys19Asn

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss70354171 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45483102 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss70354171	EGP_SNPS\|CASP5-000664		fwd/	A/T	aaggcgtaagaattttgaagctatgttcaa	ggtatccttcagagtggattggataacttc	04/18/07	03/31/08	127	Genomic			unknown
ss86346302	CANCER-GENOME\|1529		rev/	A/T	gaagttatccaatccactctgaaggatacc	ttgaacatagcttcaaaattcttacgcctt	01/25/08	01/25/08	130	Genomic			unknown

Fasta sequence (Legend)

 GGCAATGAAT TGTTAAACAC AGCCTGGTAG GAATTTGATG GGTGAGAGAA TGCTACAGGT
 ACAAAGAAAT AATGAGTATT TGTTGAAGAC ATGGTAAGAC AGAATGTATT TTCAAGGGTG
 TTTCACATTA CAGAGCTTTG TCTAAAGCAA GGGCAAAACT CTTTAAGCTG TGCCCAGAGT
 TGAAGGAGTC TTTATATTTC TGATAGAAGA CAGTGGCAAA AAAAAAAGGC GTAAGAATTT
 TGAAGCTATG TTCAA
 W
 GGTATCCTTC AGAGTGGATT GGATAACTTC GTGATAAACC ACATGCTAAA GAACAACGTG
 GCTGGACAAA CATCTATCCA GACCCTAGTA CCTAATACGG ATCAAAAGTC GACCAGTGTA
 AAAAGTAAGA CTGGATATTT TACAATGGAT ATTTCCAATT TTTTAGAATC TGTTCAATTA
 TAAGTCCCAT GCAGTGACTT CTGTGATCCC CCTATCCTCC TTCCTTTATG AAACTATCAT
 TTTCACCAAA CCTAT

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NC_000011.8

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/T	HWP	A	T
ss70354171	EGP_YORUB-PANEL	Sub-Saharan African	24	AF	1.000			1.000

	EGP_HISP-PANEL	Hispanic	42	AF	0.952	0.048		0.976	0.024

	EGP_CEPH-PANEL	European	44	AF	0.909	0.091		0.955	0.045

	EGP_AD-PANEL	African American	28	AF	1.000			1.000

	EGP_ASIAN-PANEL	Asian	48	AF	1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.032+/-0.122	95	95	0	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	YES

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Revised: May 25, 2006 1:38 PM .