Reference SNP(refSNP) Cluster Report: rs13234021

Reference SNP(refSNP) Cluster Report: rs13234021

refSNP ID: rs13234021
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	121/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_001040456.1:c.178+107C>T
NM_001040457.1:c.-368+107C>T
NT_007933.14:g.742961C>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss22582767 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13234021 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
ss22582767	SSAHASNP\|WGSA-200403-chr7.chr7.NT_007933.13_742961		fwd/B	C/T	ggactcgccccttcaggcctcaccgccagt	tccccctgtctcggtcctcatcaccatgcc	03/21/04	03/21/04	121	Genomic			unknown

Fasta sequence (Legend)

 CTGCTGGTTT CCGGGCCTCG CCTGTTCCTG CTGCAGCAGC CCCTGGCGCC CTCGGGCCTC
 ACGCTGAAGT CCGAGGCCCT TCGCAACTGG CAAGGTGAGC AGGGGCGGGC CGGGATCGCG
 GGGCGAGTCC TTGTCCTCCG ACTTTGCCGG TTCCTGGGCT CTAGCCTCCG GGACTCGCCC
 CTTCAGGCCT CACCGCCAGT
 Y
 TCCCCCTGTC TCGGTCCTCA TCACCATGCC CGCCCCCCGG AGGACCGACC TCCAGCACCG
 TCTCTTGCTC TCCGTGTTCC ACACCTTTGT CTGCAGACCC CATCTTCGTC ATCACTGTAA
 TCCCTTCCCT ACCCGAATTT GTTCCCTTCC CTGTCGCCAC CAGACTGGTT AAGGCCCCAA
 ATCCATTCGC TAGCAAATCC

GeneView

GeneView via analysis of contig annotation: RHBDD2 rhomboid domain containing 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

reference

NT_007933->NM_001040456

function

reference

NT_007933->NM_001040457

function

HuRef

NW_001839047->NM_001040456

function

HuRef

NW_001839047->NM_001040457

function

Celera

NW_923484->NM_001040456

function

Celera

NW_923484->NM_001040457

function

CRA_TCAGchr7v2

NT_079595->NM_001040456

function

CRA_TCAGchr7v2

NT_079595->NM_001040457

function

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


reference	NT_007933->NM_001040456->NP_001035546	742961	forward	intron

reference	NT_007933->NM_001040457->NP_001035547	742961	forward	intron

HuRef	NW_001839047->NM_001040456->NP_001035546	407142	forward	intron

HuRef	NW_001839047->NM_001040457->NP_001035547	407142	forward	intron

Celera	NW_923484->NM_001040456->NP_001035546	373266	forward	intron

Celera	NW_923484->NM_001040457->NP_001035547	373266	forward	intron

CRA_TCAGchr7v2	NT_079595->NM_001040456->NP_001035546	742961	forward	intron

CRA_TCAGchr7v2	NT_079595->NM_001040457->NP_001035547	742961	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs13234021 maps exactly once on NCBI human chromosome 7

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
7	NW_923484.1	373266	70376512	plus	C	alt_assembly_1	Celera	Celera	view	200
7	NW_001839047.1	407142	70595002	plus	C	alt_assembly_8	HuRef	HuRef	view	200
7	NT_079595.2	742961	74841749	plus	C	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	200
7	NT_007933.14	742961	75346621	plus	C	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007933

dbSNP Blast Analysis
GenBank HTGS Finished:
AC005067.2 NC_000007.12

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 .