RGD:13809625 Rat Genome Database

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Variant: RGD:13809625 -  Homo sapiens

RGD ID: 13809625
RS ID: rs764232985
ClinVar ID: CV576996
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCK  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 44,192,980
GRCh38 7 44,153,381
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033508.3:c.125G>C
NM_000162.5:c.128G>C
NG_008847.2:g.49790G>C
NC_000007.14:g.44153381C>G
More... 		07/12/2018 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:GCK
Accession:NM_033508
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDPGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGG
TNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK
GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQNV
ELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEAS
EQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDV
MRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354800
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDPGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVA*

Gene Symbol:GCK
Accession:NM_000162
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDPGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLG
GTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEA
SEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSED
VMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_033507
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDPGLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDL
GGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI
DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQ
NVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGE
ASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSE
DVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ*

Gene Symbol:GCK
Accession:NM_001354802
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354801
Location:INTRON

Gene Symbol:GCK
Accession:XM_024446707
Location:INTRON

Gene Symbol:GCK
Accession:NM_001354803
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19790256   PMID:24430320   PMID:24606082   PMID:26467025   PMID:27634015  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711764 CLINVAR
dbSNP (RS) rs764232985 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GCK CLINVAR
OMIM 138079 CLINVAR