Reference SNP(refSNP) Cluster Report: rs34082331

Reference SNP(refSNP) Cluster Report: rs34082331

refSNP ID: rs34082331
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/129
Map to Genome Build:	36.3

Allele
Variation Class:	DIP: deletion/insertion polymorphism
RefSNP Alleles:	-/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_000873.3:c.62-470_62-469insC
NM_001099786.1:c.62-470_62-469insC
NM_001099787.1:c.62-470_62-469insC
NM_001099788.1:c.62-470_62-469insC
NM_001099789.1:c.62-470_62-469insC
NT_010783.14:g.20735213_20735214insG

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss40854181 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34082331 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
ss40854181	ABI\|hCV34591254		fwd/	-/G	ctgctatgtccaaagcatcaggctctgggg	atacagcagtgatcacagtagaccaaacac	07/17/05	07/17/05	126	Genomic			unknown

Fasta sequence (Legend)

 AGGAGGCCAC CCCCCAGCTG GCTCCCTGCC TCTGGCTGTC CTTCCTCCAG CCCCCTAGCT
 GACACCCTGC CTCTGGCTCT CCTTCCTCCA GCCCATCTGC CCATCAGCTC CAGATTAGTC
 TTCCTCAGGC TGTGCTCCAA CTCCATGGAG TGGGATCCGA CTCAGTCTTT AAGGTCAGCC
 CAAATGTCCC CTCCCCCATA AAGCCCTCCC ACAGAGGGCC CTCTGTAGCC CTCCCTCCCT
 TCCTTTCTTG CACAAACACT TTTTGAACAC CTGCTATGTC CAAAGCATCA GGCTCTGGGG
 N
 ATACAGCAGT GATCACAGTA GACCAAACAC TGCCCTGGCG GAGCTCCAGT AAACAGTGAC
 AGGCAGAGCA CCCAGCGGTC AGATGGCAGG AAAGCGCCGA GAAAGGGAGC AGGGAGTGGG
 GGTGAGGCCA CTTTAAATAC TGTGCTCAAT GAAGGCCTCA CCCAGATGGT GACTCTGTGG
 GCAAAGGCAT GCAGGGGCGT GGCACGCCCT GCAGATACTT GGGGGCAGTG ATCCAGGGGA
 AGGGGGCCAG CAGTGCAAAG GCTGGGGCAG GAGGATTGTT GAGCCCAGGA GTTGGAGGCT

GeneView

GeneView via analysis of contig annotation: C17orf72 chromosome 17 open reading frame 72

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: ICAM2 intercellular adhesion molecule 2

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

HuRef

NW_001838450->XM_001724631

function

HuRef

NW_001838450->XM_001724632

function

reference

NT_010783->NM_000873

function

reference

NT_010783->NM_001099786

function

reference

NT_010783->NM_001099787

function

reference

NT_010783->NM_001099788

function

reference

NT_010783->NM_001099789

function

HuRef

NW_001838450->NM_000873

function

HuRef

NW_001838450->NM_001099786

function

HuRef

NW_001838450->NM_001099787

function

HuRef

NW_001838450->NM_001099788

function

HuRef

NW_001838450->NM_001099789

function

Celera

NW_926894->NM_000873

function

Celera

NW_926894->NM_001099786

function

Celera

NW_926894->NM_001099787

function

Celera

NW_926894->NM_001099788

function

Celera

NW_926894->NM_001099789

function

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


HuRef	NW_001838450->XM_001724631->XP_001724683	825481:825482	reverse	3' near gene

HuRef	NW_001838450->XM_001724632->XP_001724684	825481:825482	reverse	3' near gene

reference	NT_010783->NM_000873->NP_000864	20735213:20735214	reverse	intron

reference	NT_010783->NM_001099786->NP_001093256	20735213:20735214	reverse	intron

reference	NT_010783->NM_001099787->NP_001093257	20735213:20735214	reverse	intron

reference	NT_010783->NM_001099788->NP_001093258	20735213:20735214	reverse	intron

reference	NT_010783->NM_001099789->NP_001093259	20735213:20735214	reverse	intron

HuRef	NW_001838450->NM_000873->NP_000864	825481:825482	forward	intron

HuRef	NW_001838450->NM_001099786->NP_001093256	825481:825482	forward	intron

HuRef	NW_001838450->NM_001099787->NP_001093257	825481:825482	forward	intron

HuRef	NW_001838450->NM_001099788->NP_001093258	825481:825482	forward	intron

HuRef	NW_001838450->NM_001099789->NP_001093259	825481:825482	forward	intron

Celera	NW_926894->NM_000873->NP_000864	14402293:14402294	reverse	intron

Celera	NW_926894->NM_001099786->NP_001093256	14402293:14402294	reverse	intron

Celera	NW_926894->NM_001099787->NP_001093257	14402293:14402294	reverse	intron

Celera	NW_926894->NM_001099788->NP_001093258	14402293:14402294	reverse	intron

Celera	NW_926894->NM_001099789->NP_001093259	14402293:14402294	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs34082331 maps exactly once on NCBI human chromosome 17

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
17	NW_926894.1	14402293^14402294	56471271^56471272	plus	-	alt_assembly_1	Celera	Celera	view	300..300
17	NW_001838450.2	825481^825482	57450855^57450856	minus	-	alt_assembly_8	HuRef	HuRef	view	300..300
17	NT_010783.14	20735213^20735214	59436934^59436935	plus	-	ref_assembly	reference	reference	view	300..300

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis
GenBank HTGS Finished:
AC005803.1 NC_000017.9

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 .