RGD:8600644 Rat Genome Database

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Variant: RGD:8600644 -  Homo sapiens

RGD ID: 8600644
RS ID: rs6267
ClinVar ID: CV32631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COMT  LOC127895354  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 19,950,263
GRCh38 22 19,962,740
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011526.1:g.26001G>T
NC_000022.11:g.19962740G>T
NC_000022.10:g.19950263G>T
NP_000745.1:p.Ala72Ser
More... 		04/28/2018 2kb upstream variant|missense|missense variant risk factor|drug response Ultram response
Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:COMT
Accession:NM_000754
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQPIHNLLMGDTKEQRILNHVLQHAEPGNSQSVLEAID
TYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQRMVDFAGVKD
KVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVICPGAPDFLAHVRGSSCFE
CTHYQSFLEYREVVDGLEKAIYKGPGSEAGP*

Gene Symbol:COMT
Accession:NM_001135162
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQPIHNLLMGDTKEQRILNHVLQHAEPGNSQSVLEAID
TYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQRMVDFAGVKD
KVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVICPGAPDFLAHVRGSSCFE
CTHYQSFLEYREVVDGLEKAIYKGPGSEAGP*

Gene Symbol:COMT
Accession:NM_001362828
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQPIHNLLMGDTKEQRILNHVLQHAEPGNSQSVLEAID
TYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQRMVDFAGVKD
KVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVICPGAPDFLAHVRGSSCFE
CTHYQSFLEYREVVDGLEKAIYKGPGSEAGP*

Gene Symbol:COMT
Accession:NM_001135161
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEAPPLLLAAVLLGLVLLVVLLLLLRHWGWGLCLIGWNEFILQPIHNLLMGDTKEQRILNHVLQHAEPGNSQSVLEAID
TYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCGYSAVRMARLLSPGARLITIEINPDCAAITQRMVDFAGVKD
KVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLLRKGTVLLADNVICPGAPDFLAHVRGSSCFE
CTHYQSFLEYREVVDGLEKAIYKGPGSEAGP*

Gene Symbol:COMT
Accession:NM_007310
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDTKEQRILNHVLQHAEPGNSQSVLEAIDTYCEQKEWAMNVGDKKGKIVDAVIQEHQPSVLLELGAYCGYSAVRMARLL
SPGARLITIEINPDCAAITQRMVDFAGVKDKVTLVVGASQDIIPQLKKKYDVDTLDMVFLDHWKDRYLPDTLLLEECGLL
RKGTVLLADNVICPGAPDFLAHVRGSSCFECTHYQSFLEYREVVDGLEKAIYKGPGSEAGP*
Variant Samples
Additional References at PubMed
PMID:15645182  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019157 CLINVAR
  RCV001028887 CLINVAR
dbSNP (RS) rs6267 CLINVAR
MedGen C2675945 CLINVAR
  CN078023 CLINVAR
NCBI Gene COMT CLINVAR
OMIM 116790 CLINVAR
OMIM Allele 116790.0002 CLINVAR