RGD:151890489 Rat Genome Database

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Variant: RGD:151890489 -  Homo sapiens

RGD ID: 151890489
RS ID: rs946261593
ClinVar ID: CV1348958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GIGYF2  KCNJ13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 233,635,715
GRCh38 2 232,771,005
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172417.1:c.118A>G
NM_001172416.1:c.224+134A>G
NM_002242.4:c.358A>G
NM_001103146.3:c.532+9569T>C
More... 		09/01/2021 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ13
Accession:NM_001172417
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTLGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:NM_002242
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTLGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:XM_047444253
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTLGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:GIGYF2
Accession:NM_001103146
Location:INTRON

Gene Symbol:KCNJ13
Accession:NM_001172416
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_015575
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103147
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103148
Location:INTRON

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_103493
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 RCV001943055 CLINVAR
  RCV002556318 CLINVAR
dbSNP (RS) rs946261593 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene GIGYF2 CLINVAR
  KCNJ13 CLINVAR
OMIM 603208 CLINVAR
  612003 CLINVAR