Reference SNP(refSNP) Cluster Report: rs28589845

Reference SNP(refSNP) Cluster Report: rs28589845

refSNP ID: rs28589845
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	125/129
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_152413.2:c.1034C>T
NP_689626.2:p.P345L
NT_007995.14:g.8113017G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss35351739 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28589845 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
ss35351739	SSAHASNP\|TA-079.chr8_37911786		fwd/T	A/G	tccaagatagccgtgggtcccactctgctc	gtgatgtgaccccaggacccaggggttccc	03/11/05		125	Genomic			unknown

Fasta sequence (Legend)

 TACTTCTGGG GGTCCAGAAG TGTCTTTAAA GCAGCCCATT TTCCAGAGGA CAGAATCAAA
 ATCTGGAGTG AAGCTAGGAA CTGGTCACCT AGTCAGTGAA GTTTAATGCT CAAATACAGG
 CCAAAGGTCA GAAAGGGGGG ACACCAGCCC CCTAGACCCT TACAGTTGAG TCCAAGATAG
 CCGTGGGTCC CACTCTGCTC
 R
 GTGATGTGAC CCCAGGACCC AGGGGTTCCC AGGAGCTGGA GTTTCTCCTT CACTTTTTCC
 TTGGTTAGCA TGATGTTCTC TACAACTTCT TTTAGACTCT GCTTCCTACC AAGGAAGGAC
 AATGAGAAAG GAGGGTGTGA GGTCCCCCTT GCCCTCAAAC CTCCCTCATT GCCAGTCCAC
 TCTTCTTACC TTCAAAGGTC

GeneView

GeneView via analysis of contig annotation: GOT1L1 glutamic-oxaloacetic transaminase 1-like 1

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_007995->NM_152413

function

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


reference	NT_007995->NM_152413->NP_689626	8113018	reverse	1134	missense	T	Leu [L]	2	345
					contig reference	C	Pro [P]	2	345

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs28589845 maps exactly once on NCBI human chromosome 8

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
8	NW_001839128.2	983966	36327040	minus	C	alt_assembly_8	HuRef	HuRef	view	200
8	NW_923907.1	25312173	36744335	plus	G	alt_assembly_1	Celera	Celera	view	200
8	NT_007995.14	8113018	37911786	plus	G	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):
NM_152413.2

3D structure mapping
NP_689626

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 .