RGD:15108112 Rat Genome Database

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Variant: RGD:15108112 -  Homo sapiens

RGD ID: 15108112
RS ID: rs143779924
ClinVar ID: CV722952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPT  LOC101928953  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 145,730,228
GRCh38 8 144,504,845
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015828.1:g.5764G>A
NC_000008.11:g.144504845G>A
NC_000008.10:g.145730228G>A
NM_005309.2:c.327G>A
More... 		03/04/2019 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GPT
Accession:NM_001382665
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQRALELEQELRQGVKKPFTEVIRANIGDAQAMGQRPIT
FLRQVLALCVNPDLLSSPNFPDDAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPADPNNVFLSTGA
SDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDVAELHRALGQARDHCRPRALCVI
NPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQDNVYAAGSQFHSFKKVLMEMGPPYAGQQELASFHSTSKGYMGEC
GFRGGYVEVVNMDAAVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQFQAEKQAVLAELAAKAKLTEQVFNEA
PGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGICVVPGSGFGQREGTYHFRMTILPPLEKLRLL
LEKLSRFHAKFTLEYS*

Gene Symbol:GPT
Accession:NM_001382664
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQRALELEQELRQGVKKPFTEVIRANIGDAQAMGQRPIT
FLRQVLALCVNPDLLSSPNFPDDAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPADPNNVFLSTGA
SDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDVAELHRALGQARDHCRPRALCVI
NPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQDNVYAAGSQFHSFKKVLMEMGPPYAGQQELASFHSTSKGYMGEC
GFRGGYVEVVNMDAAVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQFQAEKQAVLAELAAKAKLTEQVFNEA
PGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGICVVPGSGFGQREGTYHFRMTILPPLEKLRLL
LEKLSRFHAKFTLEYS*

Gene Symbol:GPT
Accession:NM_005309
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQRALELEQELRQGVKKPFTEVIRANIGDAQAMGQRPIT
FLRQVLALCVNPDLLSSPNFPDDAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPADPNNVFLSTGA
SDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDVAELHRALGQARDHCRPRALCVI
NPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQDNVYAAGSQFHSFKKVLMEMGPPYAGQQELASFHSTSKGYMGEC
GFRGGYVEVVNMDAAVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQFQAEKQAVLAELAAKAKLTEQVFNEA
PGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGICVVPGSGFGQREGTYHFRMTILPPLEKLRLL
LEKLSRFHAKFTLEYS*

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000893607 CLINVAR
dbSNP (RS) rs143779924 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GPT CLINVAR
OMIM 138200 CLINVAR