Reference SNP(refSNP) Cluster Report: rs34388369

Reference SNP(refSNP) Cluster Report: rs34388369

refSNP ID: rs34388369
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:	-/A
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_006115.3:c.22-1317_22-1316insT
NM_206953.1:c.22-1317_22-1316insT
NM_206954.1:c.22-1317_22-1316insT
NM_206955.1:c.22-1317_22-1316insT
NM_206956.1:c.22-1317_22-1316insT
NT_011520.11:g.2285396_2285397insA

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss41518855 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34388369 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
ss41518855	ABI\|hCV33858804		fwd/	-/A	aaaattcaaagtagatgtcttttattttcc	aaaaaaaaaaaaaaagccgtttaagaaatt	07/17/05	07/17/05	126	Genomic			unknown

Fasta sequence (Legend)

 GACCTCATCT CTATTAAAAA AAAAAAAAAG AAAAAAAAGA AAGAAAATGT CTTTAATTCC
 AAAGCATCTG AAAAGAAAAA GAAAAAAATC TATGGAATAT TTTTTAACCT TTTAGTTAAA
 ATGGAATATT TTTTAACCTT GTAGTTAAAA TGGAATATTT TTTAACCTTG TAGTTAAAAA
 AAAGCCTAAC TAGTAAATCA CTGATTTAAA AAATCATAAA TGATGCAAAT TATAATTGCT
 TGCCACATAC TATTTAAATT GTAATAAAGT AAAATTCAAA GTAGATGTCT TTTATTTTCC
 N
 AAAAAAAAAA AAAAAGCCGT TTAAGAAATT ATTTTTAACA TATACAAAAT GGCAGAAATC
 AAAATGTTTG GGATTCAATA TAAATAATAA ATGTTCCAGG TAATGGTTAT ACTAATTACC
 ATAATTTGAT CATTACATAC TATATATGCA TAAACTGAAA TTTCACATGT ACCCTATAAA
 TATGTACAAT TATTGTGTAT CAATTAAGAA ATCAATCCAA TAACCAAATA AAAATGTTTG
 GGATTAAGGC AAAACTACAT TTAGAGACAA GAACAAAGCC TGTTCCTTTG TAAGGAAAGA

GeneView

GeneView via analysis of contig annotation: PRAME preferentially expressed antigen in melanoma

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_011520->NM_006115

function

reference

NT_011520->NM_206953

function

reference

NT_011520->NM_206954

function

reference

NT_011520->NM_206955

function

reference

NT_011520->NM_206956

function

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


reference	NT_011520->NM_006115->NP_006106	2285396:2285397	reverse	intron

reference	NT_011520->NM_206953->NP_996836	2285396:2285397	reverse	intron

reference	NT_011520->NM_206954->NP_996837	2285396:2285397	reverse	intron

reference	NT_011520->NM_206955->NP_996838	2285396:2285397	reverse	intron

reference	NT_011520->NM_206956->NP_996839	2285396:2285397	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs34388369 maps exactly once on NCBI human chromosome 22

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
22	NW_001838745.1	992520^992521	5865387^5865388	plus	-	alt_assembly_8	HuRef	HuRef	view	300..300
22	NW_927628.1	981177^981178	6714983^6714984	plus	-	alt_assembly_1	Celera	Celera	view	300..300
22	NT_011520.11	2285396^2285397	21224827^21224828	plus	-	ref_assembly	reference	reference	view	300..300

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis

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 .