Reference SNP(refSNP) Cluster Report: rs35018630

Reference SNP(refSNP) Cluster Report: rs35018630

refSNP ID: rs35018630
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	126/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	A/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_182594.1:c.933C>T
NP_872400.1:p.C311C
NT_023133.12:g.23201923C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48418202 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35018630 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
ss48418202	APPLERA_GI\|hCV25991099		fwd/T	A/G	gatattctggtgtttggtaaggtgtgccct	cacacaaaggctttttcacaaatgttacat	09/28/05	11/03/06	126	Genomic			unknown

Fasta sequence (Legend)

 AGGTTTCTCT CCAGTGTGAA TTTTCCGATG TCGTGCAAAG GATGAATTAT CCCTGAAAGC
 TTTCCCACAT TCATTACATT TATAAGGTTT CTCTCCAGTA TGAATTCTCT GATGTTCAGT
 AAGGGAAGAG TTCACCCTGA AGGCCTTCCC ACATTCATTA CATTCAAAGG GTTTCTCTCC
 AGTGTGAATT CTCTGATGCT GAAGGAAACT TGTACTCTGA TTAAAGGCTT TTCCACATTC
 ATTGCATTTA TAGGGTTTCT CTCCACTGTG GATATTCTGG TGTTTGGTAA GGTGTGCCCT
 R
 CACACAAAGG CTTTTTCACA AATGTTACAT TTAAAAGGTT TCTCTCCAGT ATGTATTCTA
 TGATGATGGG CAAGGTGTAT ATTTCGGATA AAAGCTTTTC CACATAAGTT GCATTCAAAA
 GGCTTCTCTC CAGTATGAAT TTTCTGATGG TACGTAAGTG AGGAGCTCAC TGAGAAGGCC
 TTGCCACATT CCTTACATTC ATAGGGTTTC TCGCCAGTGT GAATTCTTTG GTGATGGATA
 AGGTGCGTAC TCTGGTGAAA GGCTTTCCCA CATTCTCTAC ATTCATATCT TTTCTCCTTA

GeneView

GeneView via analysis of contig annotation: ZNF454 zinc finger protein 454

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_023133->NM_182594

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos


reference	NT_023133->NM_182594->NP_872400	23201924	forward	1204	synonymous	T	Cys [C]	3	311
					contig reference	C	Cys [C]	3	311

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs35018630 maps exactly once on NCBI human chromosome 5

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
5	NW_001838967.1	923912	173119580	minus	C	alt_assembly_8	HuRef	HuRef	view	300
5	NW_922818.1	916686	174019338	minus	C	alt_assembly_1	Celera	Celera	view	300
5	NT_023133.12	23201924	178324944	minus	C	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):	GenBank mRNA:
NM_182594.1	AK094763.1 AK292317.1 BC105061.1 BC112276.1

3D structure mapping
NP_872400

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss48418202	AGI_ASP population	multiple	70	IG	0.057	0.943	1.000	0.029	0.971

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.056+/-0.157	36	36	0	0

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 .