RGD:402468770 Rat Genome Database

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Variant: RGD:402468770 -  Homo sapiens

RGD ID: 402468770
ClinVar ID: CV2930737
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCKR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 27,719,821
GRCh38 2 27,496,954
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001486.4:c.50G>A
NG_028024.1:g.5116G>A
NC_000002.12:g.27496954G>A
NC_000002.11:g.27719821G>A
More... 		09/21/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GCKR
Accession:XM_011532763
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGTKRFQHVIETPEPDKWELSGYEAAVPITEKSNPLTQDLDKADAENIVRLLGQCDAEIFQEEGQALSTYQRLYSESIL
TTMVQVAGKVQEVLKEPDGGLVVLSGGGTSGRMAFLMSVSFNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGI
EELKKVAAGKKRVIVIGISVGLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMQKMQEKQ
KAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSV
STRFPRCPWLSHW*

Gene Symbol:GCKR
Accession:NM_001486
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGTKRFQHVIETPEPDKWELSGYEAAVPITEKSNPLTQDLDKADAENIVRLLGQCDAEIFQEEGQALSTYQRLYSESIL
TTMVQVAGKVQEVLKEPDGGLVVLSGGGTSGRMAFLMSVSFNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGI
EELKKVAAGKKRVIVIGISVGLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMQKMQEKQ
KAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSV
STSLEKKGHVYLVGWQTLGIIAIMDGVECIHTFGADFRDVRGFLIGDHSDMFNQKAELTNQGPQFTFSQEDFLTSILPSL
TEIDTVVFIFTLDDNLTEVQTIVEQVKEKTNHIQALAHSTVGQTLLIPLKKLFPSIISITWPLLFFEYEGNFIQKFQREL
STKWVLNTVSTGAHVLLGKILQNHMLDLRISNSKLFWRALAMLQRFSGQSKARCIESLLRAIHFPQPLSDDIRAAPISCH
VQVAHEKEQVIPIALLSLLFRCSITEAQAHLAAAPSVCEAVRSALAGPGQKRTADPLEILEPDVQ*

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

Gene Symbol:GCKR
Accession:XM_017003796
Location:INTRON

Gene Symbol:GCKR
Accession:XM_017003797
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003569980 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCKR CLINVAR
OMIM 600842 CLINVAR