RGD:126915951 Rat Genome Database

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Variant: RGD:126915951 -  Homo sapiens

RGD ID: 126915951
RS ID: rs2106334923
ClinVar ID: CV1041204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GIGYF2  KCNJ13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 233,633,205
GRCh38 2 232,768,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172416.1:c.*258A>G
NM_001103146.3:c.532+7059T>C
NM_001103147.2:c.532+7059T>C
NM_001103148.2:c.532+7059T>C
More... 		03/18/2020 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNJ13
Accession:NM_001172416
Location:3UTRS;EXON

Gene Symbol:KCNJ13
Accession:NM_002242
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHANPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:XM_047444253
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHANPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:NM_001172417
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHANPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:GIGYF2
Accession:NM_001103146
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103148
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_015575
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103147
Location:INTRON

Gene Symbol:GIGYF2
Accession:NR_103493
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103495
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103494
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103492
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001371218 CLINVAR
dbSNP (RS) rs2106334923 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GIGYF2 CLINVAR
  KCNJ13 CLINVAR
OMIM 603208 CLINVAR
  612003 CLINVAR