RGD:39456309 Rat Genome Database

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Variant: RGD:39456309 -  Homo sapiens

RGD ID: 39456309
RS ID: rs1475176373
ClinVar ID: CV966579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GIGYF2  KCNJ13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 233,633,329
GRCh38 2 232,768,619
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001103147.2:c.532+7183G>A
NM_001103148.2:c.532+7183G>A
NM_001172416.1:c.*134C>T
NM_001172417.1:c.415C>T
More... 		3 prime utr variant pathogenic
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:KCNJ13
Accession:XM_047444253
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYKTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:NM_001172417
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYKTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:KCNJ13
Accession:NM_002242
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLVFAVLWYVLAE
MNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKI
ARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYKTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDK
TVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE*

Gene Symbol:GIGYF2
Accession:NM_015575
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103146
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_103493
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:27203561  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001257099 CLINVAR
dbSNP (RS) rs1475176373 CLINVAR
MedGen C3280062 CLINVAR
NCBI Gene GIGYF2 CLINVAR
  KCNJ13 CLINVAR
OMIM 603208 CLINVAR
  612003 CLINVAR
  614186 CLINVAR