RGD:150415452 Rat Genome Database

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Variant: RGD:150415452 -  Homo sapiens

RGD ID: 150415452
RS ID: rs147073127
ClinVar ID: CV1196899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCKR  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 27,726,437
GRCh38 2 27,503,570
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.27726437A>C
NM_001486.4:c.701A>C
NG_028024.1:g.11732A>C
NC_000002.12:g.27503570A>C
More... 		08/23/2022 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GCKR
Accession:XM_017003796
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMPKMQEKQKAFVLNPAIGPEGLSGSSRMKGGSATKILL
ETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSVSTSLEKKGHVYLVGWQTLGIIAIMDGVECI
HTFGADFRDVRGFLIGDHSDMFNQKAELTNQGPQFTFSQEDFLTSILPSLTEIDTVVFIFTLDDNLTEVQTIVEQVKEKT
NHIQALAHSTVGQTLLIPLKKLFPSIISITWPLLFFEYEGNFIQKFQRELSTKWVLNTVSTGAHVLLGKILQNHMLDLRI
SNSKLFWRALAMLQRFSGQSKARCIESLLRAIHFPQPLSDDIRAAPISCHVQVAHEKEQVIPIALLSLLFRCSITEAQAH
LAAAPSVCEAVRSALAGPGQKRTADPLEILEPDVQ*

Gene Symbol:GCKR
Accession:NM_001486
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGTKRFQHVIETPEPGKWELSGYEAAVPITEKSNPLTQDLDKADAENIVRLLGQCDAEIFQEEGQALSTYQRLYSESIL
TTMVQVAGKVQEVLKEPDGGLVVLSGGGTSGRMAFLMSVSFNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGI
EELKKVAAGKKRVIVIGISVGLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMPKMQEKQ
KAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSV
STSLEKKGHVYLVGWQTLGIIAIMDGVECIHTFGADFRDVRGFLIGDHSDMFNQKAELTNQGPQFTFSQEDFLTSILPSL
TEIDTVVFIFTLDDNLTEVQTIVEQVKEKTNHIQALAHSTVGQTLLIPLKKLFPSIISITWPLLFFEYEGNFIQKFQREL
STKWVLNTVSTGAHVLLGKILQNHMLDLRISNSKLFWRALAMLQRFSGQSKARCIESLLRAIHFPQPLSDDIRAAPISCH
VQVAHEKEQVIPIALLSLLFRCSITEAQAHLAAAPSVCEAVRSALAGPGQKRTADPLEILEPDVQ*

Gene Symbol:GCKR
Accession:XM_017003797
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMPKMQEKQKAFVLNPAIGPEGLSGSSRMKGGSATKILL
ETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSVSTSLEKKGHVYLVGWQTLGIIAIMDGVECI
HTFGADFRDVRGFLIGDHSDMFNQKAELTNQGPQFTFSQEDFLTSILPSLTEIDTVVFIFTLDDNLTEVQTIVEQVKEKT
NHIQALAHSTVGQTLLIPLKKLFPSIISITWPLLFFEYEGNFIQKFQRELSTKWVLNTVSTGAHVLLGKILQNHMLDLRI
SNSKLFWRALAMLQRFSGQSKARCIESLLRAIHFPQPLSDDIRAAPISCHVQVAHEKEQVIPIALLSLLFRCSITEAQAH
LAAAPSVCEAVRSALAGPGQKRTADPLEILEPDVQ*

Gene Symbol:GCKR
Accession:XM_011532763
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGTKRFQHVIETPEPGKWELSGYEAAVPITEKSNPLTQDLDKADAENIVRLLGQCDAEIFQEEGQALSTYQRLYSESIL
TTMVQVAGKVQEVLKEPDGGLVVLSGGGTSGRMAFLMSVSFNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGI
EELKKVAAGKKRVIVIGISVGLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMPKMQEKQ
KAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSV
STRFPRCPWLSHW*

Gene Symbol:GCKR
Accession:XR_001738699
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001575406 CLINVAR
dbSNP (RS) rs147073127 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCKR CLINVAR
OMIM 600842 CLINVAR