Reference SNP(refSNP) Cluster Report: rs9928392

Reference SNP(refSNP) Cluster Report: rs9928392

refSNP ID: rs9928392
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	119/129
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_005187.4:c.712-1336C>T
NM_175931.1:c.454-1336C>T
NT_010542.15:g.514503G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss13767280 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9928392 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
ss13767280	BCM_SSAHASNP\|chr16.NT_010542.14_511707		fwd/T	A/G	tggggccagctgaggccagctgggagccgg	gcggtgggtggggctgcatcccccagcttc	11/05/03	11/22/03	119	Genomic			unknown

Fasta sequence (Legend)

 ATCTGTTGAG GACATCAGGA GCATGAGCTG GGAAACGAGG TCCCGGGAGG TCTGAGGAGC
 CAAACATCCT CCCTCCCTCA TCAGCCCCTC CCCAGGGGCC TCCTCTTGGT CAGTTCGGGA
 ACCGGCTGGT CGCTGTTAGG GCGGGGAGAA CATCTGGATC CCTGGCTGGC TGGGGCCAGC
 TGAGGCCAGC TGGGAGCCGG
 R
 GCGGTGGGTG GGGCTGCATC CCCCAGCTTC TGGAAGGCCT GACCCTTGGG CTGCGTGTGG
 GGCAGGCTCA GGAAAGGGTG CAGAGAACCC AGGACTGGGC AGCATCAGCG TAGGGGCCGG
 ATGCACAGCA GCCCTCGGCA AGCAGGGAAT GTTTCCTCAA GGCCTGCGGA ATGGGGTGGG
 GACTGTGGGA ACCTCCGGCA

GeneView

GeneView via analysis of contig annotation: CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3

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_010542->NM_005187

function

reference

NT_010542->NM_175931

function

HuRef

NW_001838334->NM_005187

function

HuRef

NW_001838334->NM_175931

function

Celera

NW_926561->NM_005187

function

Celera

NW_926561->NM_175931

function

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


reference	NT_010542->NM_005187->NP_005178	514503	reverse	intron

reference	NT_010542->NM_175931->NP_787127	514503	reverse	intron

HuRef	NW_001838334->NM_005187->NP_005178	88710	reverse	intron

HuRef	NW_001838334->NM_175931->NP_787127	88710	reverse	intron

Celera	NW_926561->NM_005187->NP_005178	590467	reverse	intron

Celera	NW_926561->NM_175931->NP_787127	590467	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs9928392 maps exactly once on NCBI human chromosome 16

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
16	NW_926561.1	590467	74022477	plus	G	alt_assembly_1	Celera	Celera	view	200
16	NW_001838334.1	88710	74651046	plus	G	alt_assembly_8	HuRef	HuRef	view	200
16	NT_010542.15	514503	87481387	plus	G	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_010542

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC092384.5 NC_000016.8	AC009149.5 AC021125.3 AC136930.1 AC140706.1

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 .