RGD:15201395 Rat Genome Database

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Variant: RGD:15201395 -  Homo sapiens

RGD ID: 15201395
RS ID: rs35097308
ClinVar ID: CV704157
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AOC3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 41,004,472
GRCh38 17 42,852,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277731.2:c.1112T>C
NM_003734.4:c.1112T>C
NC_000017.11:g.42852455T>C
NC_000017.10:g.41004472T>C
More... 		07/06/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AOC3
Accession:NM_003734
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQKTILVLLILAVITIFALVCVLLVGRGGDGGEPSQLPHCPSVSPSAQPWTHPGQSQLFADLSREELTAVMRFLTQRLG
PGLVDAAQARPSDNCVFSVELQLPPKAAALAHLDRGSPPPAREALAIVFFGRQPQPNVSELVVGPLPHPSYMRDVTVERH
GGPLPYHRRPVLFQEYLDIDQMIFNRELPQASGLLHHCCFYKHRGRNLVTMTTAPRGLQSGDRATWFGLYYNISGAGFFL
HHVGLELLVNHKALDPARWTIQKVFYQGRYYDSLAQLEAQFEAGLVNVVLIPDNGTGGSWSLKSPVPPGPAPPLQFYPQG
PRFSVQGSRVASSLWTFSFGLGAFSGPRIFDVRFQGERLVYEISLQEALATYGGNSPAAMTTRYVDGGFGMGKYTTPLTR
GVDCPYLATYVDWHFLLESQAPKTIRDAFCVFEQNQGLPLRRHHSDLYSHYFGGLAETVLVVRSMSTLLNYDYVWDTVFH
PSGAIEIRFYATGYISSAFLFGATGKYGNQVSEHTLGTVHTHSAHFKVDLDVAGLENWVWAEDMVFVPMAVPWSPEHQLQ
RLQVTRKLLEMEEQAAFLVGSATPRYLYLASNHSNKWGHPRGYRIQMLSFAGEPLPQNSSMARGFSWERYQLAVTQRKEE
EPSSSSVFNQNDPWAPTVDFSDFINNETIAGKDLVAWVTAGFLHIPHAEDIPNTVTVGNGVGFFLRPYNFFDEDPSFYSA
DSIYFRGDQDAGACEVNPLACLPQAAACAPDLPAFSHGGFSHN*

Gene Symbol:AOC3
Accession:NM_001277731
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQKTILVLLILAVITIFALVCVLLVGRGGDGGEPSQLPHCPSVSPSAQPWTHPGQSQLFADLSREELTAVMRFLTQRLG
PGLVDAAQARPSDNCVFSVELQLPPKAAALAHLDRGSPPPAREALAIVFFGRQPQPNVSELVVGPLPHPSYMRDVTVERH
GGPLPYHRRPVLFQEYLDIDQMIFNRELPQASGLLHHCCFYKHRGRNLVTMTTAPRGLQSGDRATWFGLYYNISGAGFFL
HHVGLELLVNHKALDPARWTIQKVFYQGRYYDSLAQLEAQFEAGLVNVVLIPDNGTGGSWSLKSPVPPGPAPPLQFYPQG
PRFSVQGSRVASSLWTFSFGLGAFSGPRIFDVRFQGERLVYEISLQEALATYGGNSPAAMTTRYVDGGFGMGKYTTPLTR
GVDCPYLATYVDWHFLLESQAPKTIRDAFCVFEQNQGLPLRRHHSDLYSHYFGGLAETVLVVRSMSTLLNYDYVWDTVFH
PSGAIEIRFYATGYISSAFLFGATGKYGNQVSEHTLGTVHTHSAHFKVDLDVAGLENWVWAEDMVFVPMAVPWSPEHQLQ
RLQVTRKLLEMEEQAAFLVGSATPRYLYLASNHSNKWGHPRGYRIQMLSFAGEPLPQNSSMARGFSWERIWWPG*

Gene Symbol:AOC3
Accession:XM_011525420
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQKTILVLLILAVITIFALVCVLLVGRGGDGGEPSQLPHCPSVSPSAQPWTHPGQSQLFADLSREELTAVMRFLTQRLG
PGLVDAAQARPSDNCVFSVELQLPPKAAALAHLDRGSPPPAREALAIVFFGRQPQPNVSELVVGPLPHPSYMRDVTVERH
GGPLPYHRRPVLFQEYLDIDQMIFNRELPQASGLLHHCCFYKHRGRNLVTMTTAPRGLQSGDRATWFGLYYNISGAGFFL
HHVGLELLVNHKALDPARWTIQKVFYQGRYYDSLAQLEAQFEAGLVNVVLIPDNGTGGSWSLKSPVPPGPAPPLQFYPQG
PRFSVQGSRVASSLWTFSFGLGAFSGPRIFDVRFQGERLVYEISLQEALATYGGNSPAAMTTRYVDGGFGMGKYTTPLTR
GVDCPYLATYVDWHFLLESQAPKTIRDAFCVFEQNQGLPLRRHHSDLYSHYFGGLAETVLVVRSMSTLLNYDYVWDTVFH
PSGAIEIRFYATGYISSAFLFGATGKYGNQVSEHTLGTVHTHSAHFKVDLDVAAFCLSAQFCVWPVVVVFWRISLHSTTS
LACAGLENWVWAEDMVFVPMAVPWSPEHQLQRLQVTRKLLEMEEQAAFLVGSATPRYLYLASNHSNKWGHPRGYRIQMLS
FAGEPLPQNSSMARGFSWERIWWPG*

Gene Symbol:AOC3
Accession:XM_047436983
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQKTILVLLILAVITIFALVCVLLVGRGGDGGEPSQLPHCPSVSPSAQPWTHPGQSQLFADLSREELTAVMRFLTQRLG
PGLVDAAQARPSDNCVFSVELQLPPKAAALAHLDRGSPPPAREALAIVFFGRQPQPNVSELVVGPLPHPSYMRDVTVERH
GGPLPYHRRPVLFQEYLDIDQMIFNRELPQASGLLHHCCFYKHRGRNLVTMTTAPRGLQSGDRATWFGLYYNISGAGFFL
HHVGLELLVNHKALDPARWTIQKVFYQGRYYDSLAQLEAQFEAGLVNVVLIPDNGTGGSWSLKSPVPPGPAPPLQFYPQG
PRFSVQGSRVASSLWTFSFGLGAFSGPRIFDVRFQGERLVYEISLQEALATYGGNSPAAMTTRYVDGGFGMGKYTTPLTR
GVDCPYLATYVDWHFLLESQAPKTIRDAFCVFEQNQGLPLRRHHSDLYSHYFGGLAETVLVVRSMSTLLNYDYVWDTVFH
PSGAIEIRFYATGYISSAFLFGATGKYGNQVSEHTLGTVHTHSAHFKVDLDVAAFCLSAQFCVWPVVVVFWRISLHSTTS
LACAGQAEKLPGRAPFSCLQLYSCDPEVA*

Gene Symbol:AOC3
Accession:XM_011525419
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQKTILVLLILAVITIFALVCVLLVGRGGDGGEPSQLPHCPSVSPSAQPWTHPGQSQLFADLSREELTAVMRFLTQRLG
PGLVDAAQARPSDNCVFSVELQLPPKAAALAHLDRGSPPPAREALAIVFFGRQPQPNVSELVVGPLPHPSYMRDVTVERH
GGPLPYHRRPVLFQEYLDIDQMIFNRELPQASGLLHHCCFYKHRGRNLVTMTTAPRGLQSGDRATWFGLYYNISGAGFFL
HHVGLELLVNHKALDPARWTIQKVFYQGRYYDSLAQLEAQFEAGLVNVVLIPDNGTGGSWSLKSPVPPGPAPPLQFYPQG
PRFSVQGSRVASSLWTFSFGLGAFSGPRIFDVRFQGERLVYEISLQEALATYGGNSPAAMTTRYVDGGFGMGKYTTPLTR
GVDCPYLATYVDWHFLLESQAPKTIRDAFCVFEQNQGLPLRRHHSDLYSHYFGGLAETVLVVRSMSTLLNYDYVWDTVFH
PSGAIEIRFYATGYISSAFLFGATGKYGNQVSEHTLGTVHTHSAHFKVDLDVAAFCLSAQFCVWPVVVVFWRISLHSTTS
LACAGLENWVWAEDMVFVPMAVPWSPEHQLQRLQVTRKLLEMEEQAAFLVGSATPRYLYLASNHSNKWGHPRGYRIQMLS
FAGEPLPQNSSMARGFSWERYQLAVTQRKEEEPSSSSVFNQNDPWAPTVDFSDFINNETIAGKDLVAWVTAGFLHIPHAE
DIPNTVTVGNGVGFFLRPYNFFDEDPSFYSADSIYFRGDQDAGACEVNPLACLPQAAACAPDLPAFSHGGFSHN*

Gene Symbol:AOC3
Accession:XM_047436982
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQKTILVLLILAVITIFALVCVLLVGRGGDGGEPSQLPHCPSVSPSAQPWTHPGQSQLFADLSREELTAVMRFLTQRLG
PGLVDAAQARPSDNCVFSVELQLPPKAAALAHLDRGSPPPAREALAIVFFGRQPQPNVSELVVGPLPHPSYMRDVTVERH
GGPLPYHRRPVLFQEYLDIDQMIFNRELPQASGLLHHCCFYKHRGRNLVTMTTAPRGLQSGDRATWFGLYYNISGAGFFL
HHVGLELLVNHKALDPARWTIQKVFYQGRYYDSLAQLEAQFEAGLVNVVLIPDNGTGGSWSLKSPVPPGPAPPLQFYPQG
PRFSVQGSRVASSLWTFSFGLGAFSGPRIFDVRFQGERLVYEISLQEALATYGGNSPAAMTTRYVDGGFGMGKYTTPLTR
GVDCPYLATYVDWHFLLESQAPKTIRDAFCVFEQNQGLPLRRHHSDLYSHYFGGLAETVLVVRSMSTLLNYDYVWDTVFH
PSGAIEIRFYATGYISSAFLFGATGKYGNQVSEHTLGTVHTHSAHFKVDLDVAAFCLSAQFCVWPVVVVFWRISLHSTTS
LACAGLENWVWAEDMVFVPMAVPWSPEHQLQRLQVTRKLLEMEEQAAFLVGSATPRYLYLASNHSNKWGHPRGYRIQMLS
FAGEPLPQNSSMARGFSWERQQDGVNGHGGLTSASLGTSWL*

Gene Symbol:AOC3
Accession:XR_007065520
Location:EXON;NON-CODING

Gene Symbol:AOC3
Accession:NR_102422
Location:EXON;NON-CODING

Gene Symbol:AOC3
Accession:XM_024451015
Location:INTRON

Gene Symbol:AOC3
Accession:NM_001277732
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000957611 CLINVAR
dbSNP (RS) rs35097308 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AOC3 CLINVAR
OMIM 603735 CLINVAR