RGD:329369848 Rat Genome Database

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Variant: RGD:329369848 -  Homo sapiens

RGD ID: 329369848
ClinVar ID: CV2461247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMZ1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 2,752,103
GRCh38 7 2,712,469
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001284355.4:c.*24G>A
NM_001384739.1:c.1019G>A
NM_001384743.1:c.1088G>A
NM_133463.4:c.1088G>A
More... 		01/23/2023 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AMZ1
Accession:NM_001284355
Location:3UTRS;EXON

Gene Symbol:AMZ1
Accession:XM_047419926
Location:3UTRS;EXON

Gene Symbol:AMZ1
Accession:NM_133463
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYT
WTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEPGTNVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGP
AEAIKEHERWLAMCIQALQREVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSA
RKLARAESAPRPWDGEES*

Gene Symbol:AMZ1
Accession:NM_001384743
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYT
WTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEPGTNVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGP
AEAIKEHERWLAMCIQALQREVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSA
RKLARAESAPRPWDGEES*

Gene Symbol:AMZ1
Accession:NM_001384739
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYTWTQAVVGTWPSQEAGEPSVWEDT
PPASADSGMCCESDSEPGTNVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGPAEAIKEHERWLAMCIQALQREVA
EEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSARKLARAESAPRPWDGEES*

Gene Symbol:AMZ1
Accession:XM_011515151
Location:INTRON

Gene Symbol:AMZ1
Accession:NM_001321766
Location:INTRON

Gene Symbol:AMZ1
Accession:XM_017011776
Location:INTRON

Gene Symbol:AMZ1
Accession:XM_017011774
Location:INTRON

Gene Symbol:AMZ1
Accession:NM_001384742
Location:INTRON

Gene Symbol:AMZ1
Accession:NM_001384740
Location:INTRON

Gene Symbol:AMZ1
Accession:NM_001384741
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004267430 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AMZ1 CLINVAR
OMIM 615168 CLINVAR