Reference SNP(refSNP) Cluster Report: rs34384834

Reference SNP(refSNP) Cluster Report: rs34384834

refSNP ID: rs34384834
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:	-/G
Ancestral Allele:	Not available
Clinical Association:	unknown

HGVS Names
NM_004915.3:c.798_799insG
NM_016818.2:c.798_799insG
NM_207174.1:c.798_799insG
NM_207627.1:c.798_799insG
NM_207628.1:c.798_799insG
NM_207629.1:c.798_799insG
NT_030188.4:g.711741_711742insG

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss41446742 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34384834 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
ss41446742	ABI\|hCV34227862		fwd/	-/G	aagacattggccaactctttcaaagtcttt	ctttttccacgtgcttcttattttaagcga	07/17/05	07/17/05	126	Genomic			unknown

Fasta sequence (Legend)

 CAATGAGAAG TCATTTTTGC AAGCCAAAAG TCGATCAATC GCATTCATTT TAAGAAATTA
 TACCTTTTTA GTACTTGCTG AAGAATGATT CAGGGTAAAT CACATACTTT GTTTAGAGAG
 GCGAGGGGTT TAACCGAGTC ACCCAGCTGG TCTCATACAT AGACAGCACT TGTGAAGGAT
 TGAATGCAGG TTCCAGGTGG AGGGAAGACG TGGACACCAT CTCCACTGAG CCATGCAGAC
 ATTTTTAAAA GCTATACAAA AAATTGTGAG AAGACATTGG CCAACTCTTT CAAAGTCTTT
 N
 CTTTTTCCAC GTGCTTCTTA TTTTAAGCGA AATATATTGT TTGTTTCTTC CTAACTTTCT
 GACTACCTTT AATTTTGCCT AGGTTGATTT AAACAAACAA ACAAACAGCT TCCCTTTCCT
 CCTGTATCAC CTCAGCTGCC TCCACTGAAC CTGGAAGAAT GGGGCTTAGG GAAATTCAGG
 CACGACCTTT GAGGGTTGGC TCAGCAGGAG TGGCCAGCAG TGAAAGATGG GCTAACTGTG
 CAAGAGGGGA GGAGGCCAAC GAGATGGCAT CAGAATCCAA GGGCTTAGGA CGAAGTCAGT

GeneView

GeneView via analysis of contig annotation: ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1

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_030188->NM_004915

function

reference

NT_030188->NM_016818

function

reference

NT_030188->NM_207174

function

reference

NT_030188->NM_207627

function

reference

NT_030188->NM_207628

function

reference

NT_030188->NM_207629

function

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


reference	NT_030188->NM_004915->	711741:711742	forward	2941	3' UTR

reference	NT_030188->NM_016818->	711741:711742	forward	2905	3' UTR

reference	NT_030188->NM_207174->	711741:711742	forward	2906	3' UTR

reference	NT_030188->NM_207627->	711741:711742	forward	3065	3' UTR

reference	NT_030188->NM_207628->	711741:711742	forward	2983	3' UTR

reference	NT_030188->NM_207629->	711741:711742	forward	2869	3' UTR

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs34384834 maps exactly once on NCBI human chromosome 21

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
21	NW_927384.1	28351389^28351390	28866266^28866267	plus	-	alt_assembly_1	Celera	Celera	view	300..300
21	NW_001838714.2	114287^114288	29134584^29134585	minus	-	alt_assembly_8	HuRef	HuRef	view	300..300
21	NT_030188.4	711741^711742	42590369^42590370	plus	-	ref_assembly	reference	reference	view	300..300

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis
GenBank HTGS Finished:
AP001623.1

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 .