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Reference SNP (refSNP) Cluster Report: rs28931568                 ** other **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/141
Map to Genome Build:106/Weight
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:G
Clinical Channel:link to VariationViewerlink to OMIM
Clinical Significance:other
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000014.9:g.94382966C>T
  • NG_008290.1:g.12727G>A
  • NM_000295.4:c.272G>A
  • NM_001002235.2:c.272G>A
  • NM_001002236.2:c.272G>A
  • NM_001127700.1:c.272G>A
  • NM_001127701.1:c.272G>A
  • NM_001127702.1:c.272G>A
  • NM_001127703.1:c.272G>A
  • NM_001127704.1:c.272G>A
  • NM_001127705.1:c.272G>A
  • NM_001127706.1:c.272G>A
  • NM_001127707.1:c.272G>A
  • NP_000286.3:p.Gly91Glu
  • NP_001002235.1:p.Gly91Glu
  • NP_001002236.1:p.Gly91Glu
  • NP_001121172.1:p.Gly91Glu
  • NP_001121173.1:p.Gly91Glu
  • NP_001121174.1:p.Gly91Glu
  • NP_001121175.1:p.Gly91Glu
  • NP_001121176.1:p.Gly91Glu
  • NP_001121177.1:p.Gly91Glu
  • NP_001121178.1:p.Gly91Glu
  • NP_001121179.1:p.Gly91Glu
  • NT_026437.13:g.76159443C>T
  • NT_187601.1:g.1499538C>T
Links , Linkout
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss244239324 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28931568 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss244239324OMICIA|2010_April_001_080_SERPINA1_107400_0015rev/BC/Taggatttcatcgtgagtgtcagccttggtcccagggagagcattgcaaaggctgtagcga05/27/1008/30/12137Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28931568|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=137
 CTTCTTCTCC CCAGTGAGCA TCGCTACAGC CTTTGCAATG CTCTCCCTGG
 R
 GACCAAGGCT GACACTCACG ATGAAATCCT GGAGGGCCTG AATTTCAACC

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000286  NP_001002235  NP_001002236  NP_001121172  NP_001121173  NP_001121174  NP_001121175  NP_001121176  NP_001121177  NP_001121178  NP_001121179  
OMIM
107400.0015

  Population Diversity (in rs orientation) Note: rs28931568 allele is reverse to the genome back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
UNKNOWNUNKNOWNUNKNOWN

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