RGD:15193538 Rat Genome Database

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Variant: RGD:15193538 -  Homo sapiens

RGD ID: 15193538
RS ID: rs141187317
ClinVar ID: CV700486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPT  LOC101928953  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 145,730,809
GRCh38 8 144,505,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005309.3:c.676G>T
NG_015828.1:g.6345G>T
NC_000008.11:g.144505426G>T
NC_000008.10:g.145730809G>T
More... 		08/23/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GPT
Accession:NM_005309
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQRALELEQELRQGVKKPFTEVIRANIGDAQAMGQRPIT
FLRQVLALCVNPDLLSSPNFPDDAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPADPNNVFLSTGA
SDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDVAELHRALCQARDHCRPRALCVI
NPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQDNVYAAGSQFHSFKKVLMEMGPPYAGQQELASFHSTSKGYMGEC
GFRGGYVEVVNMDAAVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQFQAEKQAVLAELAAKAKLTEQVFNEA
PGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGICVVPGSGFGQREGTYHFRMTILPPLEKLRLL
LEKLSRFHAKFTLEYS*

Gene Symbol:GPT
Accession:NM_001382664
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQRALELEQELRQGVKKPFTEVIRANIGDAQAMGQRPIT
FLRQVLALCVNPDLLSSPNFPDDAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPADPNNVFLSTGA
SDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDVAELHRALCQARDHCRPRALCVI
NPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQDNVYAAGSQFHSFKKVLMEMGPPYAGQQELASFHSTSKGYMGEC
GFRGGYVEVVNMDAAVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQFQAEKQAVLAELAAKAKLTEQVFNEA
PGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGICVVPGSGFGQREGTYHFRMTILPPLEKLRLL
LEKLSRFHAKFTLEYS*

Gene Symbol:GPT
Accession:NM_001382665
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQRALELEQELRQGVKKPFTEVIRANIGDAQAMGQRPIT
FLRQVLALCVNPDLLSSPNFPDDAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPADPNNVFLSTGA
SDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDVAELHRALCQARDHCRPRALCVI
NPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQDNVYAAGSQFHSFKKVLMEMGPPYAGQQELASFHSTSKGYMGEC
GFRGGYVEVVNMDAAVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQFQAEKQAVLAELAAKAKLTEQVFNEA
PGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGICVVPGSGFGQREGTYHFRMTILPPLEKLRLL
LEKLSRFHAKFTLEYS*

Gene Symbol:GPT
Accession:NR_168476
Location:EXON;NON-CODING

Gene Symbol:LOC101928953
Accession:XR_007061149
Location:EXON;NON-CODING

Gene Symbol:LOC101928953
Accession:XR_007061146
Location:EXON;NON-CODING

Gene Symbol:LOC101928953
Accession:XR_007061148
Location:EXON;NON-CODING

Gene Symbol:GPT
Accession:NR_168477
Location:EXON;NON-CODING

Gene Symbol:LOC101928953
Accession:XR_007061150
Location:EXON;NON-CODING

Gene Symbol:LOC101928953
Accession:XR_007061147
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000955399 CLINVAR
dbSNP (RS) rs141187317 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GPT CLINVAR
OMIM 138200 CLINVAR