Reference SNP(refSNP) Cluster Report: rs7517093

Reference SNP(refSNP) Cluster Report: rs7517093

refSNP ID: rs7517093
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:	C/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_014675.3:c.2836+377C>G
NT_004610.18:g.100140C>G

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss11351695 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7517093 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
ss11351695	WI_SSAHASNP\|chr1.NT_030584.9_100140		fwd/B	C/G	tttcagatgactctcttggccccagaatcc	agccccacttccctgcaccgttcccatcca	07/03/03	10/10/03	116	Genomic			unknown
ss13031831	SC_SNP\|NT_030584.9_100140		fwd/B	C/G	tttcagatgactctcttggccccagaatcc	agccccacttccctgcaccgttcccatcca	10/22/03	10/31/03	119	Genomic			unknown

Fasta sequence (Legend)

 GGCAGGCCCT GCTGCTGGCC AAGGAGACCC TGACTGGTAC GAGGGGCTGG GGACTTGGGG
 GGAACACCAG GTTCCAGCCC AGACTGCAGC CTCCCAAGGT CTGGGGTCTc acagaagttg
 ggagcactgg agtaggagtc tggctggcct gggttccagt cctgtgccac cacttagatc
 tcaccttccc ttgagcaagc ccctttcctc tctgggctgc agattcctca gctgatgatt
 ggaggtggca atgcccacct tctaagcctg ttgccaggat gacgtgggaa aagcgtgtaa
 ggccgtggca cggtgcctgg cTGAGTCAAC AGTAACTGCC GTTCATCGGT CATCAGGCCT
 GTTAGTCTGA GTTCTCTGTG CTTTTCAGAT GACTCTCTTG GCCCCAGAAT CC
 S
 AGCCCCACTT CCCTGCACCG TTCCCATCCA GTCTCTGAAC TCAGGGCTTC TTTCTGCTCA
 CCTAACATTA ACTAAGCACC TACTTGGGTC ATGGAAATTA ATTTTCCTGT CCATGTACAC
 CTGAGCCAGA CAGAACCAGG AAGGGAAATG CTGGTGGGTT TCCAACCCGG GAGATGGTTT
 TTAGATGGTA GCTATACCAT

GeneView

GeneView via analysis of contig annotation: CROCC ciliary rootlet coiled-coil, rootletin

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_004610->NM_014675

function

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


reference	NT_004610->NM_014675->NP_055490	100140	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7517093 maps exactly once on NCBI human chromosome 1

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
1	NW_001838572.1	77154	15519777	plus	C	alt_assembly_8	HuRef	HuRef	view	412
1	NW_927841.1	74579	15598136	plus	C	alt_assembly_1	Celera	Celera	view	412
1	NT_004610.18	100140	17148385	plus	C	ref_assembly	reference	reference	view	412

NCBI Resource Links

Submitter-Referenced
GenBank
NT_030584

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AL049569.13	BX284623.2

UniGene Cluster ID
522876

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 .