RGD:401869088 Rat Genome Database

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Variant: RGD:401869088 -  Homo sapiens

RGD ID: 401869088
ClinVar ID: CV2766879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GIN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 102,444,380
GRCh38 5 103,108,676
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317954.2:c.-216A>G
NM_017676.2:c.32A>G
NP_060146.2:p.His11Arg
NR_134299.2:n.114A>G
More... 		07/12/2023 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GIN1
Accession:NM_001317954
Location:5UTRS;EXON

Gene Symbol:GIN1
Accession:NM_017676
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRSGKNGDLRLKQIAYYKRTGEYHSTTLPSERSGIRRAAKKFVFKEKKLFYVGKDRKQNRLVIVSEEEKKKVLRECHEN
DSGAHHGISRTLTLVESNYYWTSVTNDVKQWVYACQHCQVAKNTVIVAPKQHLLKVENPWSLVTVDLMGPFHTSNRSHVY
AIIMTDLFTKWIVILPLCDVSASEVSKAIINIFFLYGPPQKIIMDQRDEFIQQINIELYRLFGIKQIVISHTSGTVNPTE
STPNTIKAFLSKHCADHPNNWDDHLSAVSFAFNVTHLEPTKNTPYFQMFSRNPYMPETSDSLHEVDGDNTSMFAKILDAI
KEADKIMENKTTSLGQMENNNLDELNKSKIIVKKKPKQLNPFHLKVGHEVLRQRKNWWKDGRFQSEWVGPCVIDYITESG
CAVLRDNTGVRLKRPIKMSHLKPYIRESSEQESLYLLQGSVVADHDYIGLPEIPIGAYQANILVEDATIGIVDNELLTSS
KDRELLEYRNTKISPLIDDHSSLEKQTFSLLDSSNQVLEYLS*

Gene Symbol:GIN1
Accession:XM_017009599
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRSGKNGDLRLKQIAYYKRTGEYHSTTLPSERSGIRRAAKKFVFKEKKLFYVGKDRKQNRLVIVSEEEKKKVLRECHEN
DSGAHHGISRTLTLVESNYYWTSVTNDVKQWVYACQHCQVAKNTVIVAPKQHLLKVENPWSLVTVDLMGPFHTSNRSHVY
AIIMTDLFTKWIVILPLCDVSASEVSKAIINIFFLYGPPQKIIMDQRDEFIQQINIELYRLFGIKQIVISHTSGTVNPTE
STPNTIKAFLSKHCADHPNNWDDHLSAVSFAFNVTHLEPTKNTPYFQMFSRNPYMPETSDSLHEVDGDNTSMFAKILDAI
KEADKIMENKTTSLGQMENNNLDELNKSKIIVKKKPKQLNPFHLKVGHEVLRQRKNWWKDGRFQSEWVGPCVIDYITESG
CAVLRDNTGVRLKRPIKMSHLKPYIRESSEQESLYLLQGSVVADHDYIGLPEIPIGAYQANILVEDATIGIVDNELLTSS
KDRELLEYRNTKISPLIDDHSSLEKQTFSLLDSSNQVLEYLS*

Gene Symbol:GIN1
Accession:NR_134299
Location:EXON;NON-CODING

Gene Symbol:GIN1
Accession:XM_047417343
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003345639 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GIN1 CLINVAR