Reference SNP(refSNP) Cluster Report: rs7210317

Reference SNP(refSNP) Cluster Report: rs7210317

refSNP ID: rs7210317
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	116/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	A
Clinical Association:	unknown

HGVS Names
NM_024110.2:c.2808-252A>G
NT_024871.11:g.585224A>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss10852123 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7210317 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss10852123	BCM_SSAHASNP\|chr17.NT_024871.10_583362	fwd/T	A/G	gctaaggacaaaaaaaaaaaaagtaaaaaa	ttacttggtttcctggggacagaccaagat	06/30/03	10/10/03	116	Genomic	unknown
ss78349469	HGSV\|Cor12878_SNV_20070510.chr17_75796280	fwd/T	A/G	gctaaggacaaaaaaaaaaaaagtaaaaaa	ttacttggtttcctggggacagaccaagat	10/17/07	10/19/07	129	Genomic	unknown
ss83250781	HGSV\|Cor18956_SNV_20070510.chr17_75796280	fwd/T	A/G	gctaaggacaaaaaaaaaaaaagtaaaaaa	ttacttggtttcctggggacagaccaagat	11/30/07	12/04/07	130	Genomic	unknown

Fasta sequence (Legend)

 CTGGAAAATG ACATTTTATA ATTGAAATTT AAAGTTGTAA ATTAACAAAT TGGCACTCCC
 TCCCCCAAGA GCAGCTCAGA GGACCATTGT AAGGCCAGAA CCCCACCCGG CCTCAGCTCC
 ACTGACCCTC CACTTACTGG TGCTTGGCTA GCACAATCTA ATCCTTGTCG GCTAAGGACA
 AAAAAAAAAA AAGTAAAAAA
 R
 TTACTTGGTT TCCTGGGGAC AGACCAAGAT GTCCTGCTAC TGTGCCCTTT CTACTCCAGG
 AAGCAAGGCT GTGTTCTAGA CAACCTGCCT CCCACCACTG GGGCCTGGGG CCTATTTTCT
 TTACAAGGTC CCCTCAAAGC GAGGCCACCT GTGTTTAGGG GTGTTTGGGT GCATGTCATC
 ACTACCCTAG CCAGGGCTCC

GeneView

GeneView via analysis of contig annotation: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

GeneView via analysis of contig annotation: CARD14 caspase recruitment domain family, member 14

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_024871->NM_000199

function

Celera

NW_926918->NM_000199

function

reference

NT_024871->NM_024110

function

HuRef

NW_001838457->NM_024110

function

Celera

NW_926918->NM_024110

function

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


reference	NT_024871->NM_000199->NP_000190	585224	reverse	3' near gene

Celera	NW_926918->NM_000199->NP_000190	15316277	reverse	3' near gene

reference	NT_024871->NM_024110->NP_077015	585224	forward	intron

HuRef	NW_001838457->NM_024110->NP_077015	286969	reverse	intron

Celera	NW_926918->NM_024110->NP_077015	15316277	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7210317 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_001838457.2	286969	73621954	minus	T	alt_assembly_8	HuRef	HuRef	view	200
17	NW_926918.1	15316277	74810876	plus	A	alt_assembly_1	Celera	Celera	view	200
17	NT_024871.11	585224	75796280	plus	A	ref_assembly	reference	reference	view	200

NCBI Resource Links

Submitter-Referenced
GenBank
NT_024871

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC087741.18 AC123764.18 AC127515.9 NC_000017.9	AC015559.10 AC109321.15

UniGene Cluster ID
550529

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

DoubleHit found by: BCM_SSAHASNP

UNKNOWN

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Revised: May 25, 2006 1:38 PM .