RGD:15192966 Rat Genome Database

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Variant: RGD:15192966 -  Homo sapiens

RGD ID: 15192966
RS ID: rs1583172032
ClinVar ID: CV766246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMZ1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 2,748,256
GRCh38 7 2,708,622
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_133463.3:c.507A>G
NP_001371671.1:p.Pro169=
NP_001371672.1:p.Pro169=
NP_597720.1:p.Pro169=
More...
06/29/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AMZ1
Accession:NM_133463
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYT
WTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEPGTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGP
AEAIKEHERWLAMCIQALQREVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSA
RKLARAESAPRPWDGEES*

Gene Symbol:AMZ1
Accession:NM_001284355
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS
HLPEEAAACPGFQAHREVPETLHLDSGGGGDVAQPGGGGAVSVGGHPACQRRLGHVL*

Gene Symbol:AMZ1
Accession:XM_011515151
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS
HLPEEAAACPGFQAHREVPGELGEPSSFSHSWELKQHLKSLSFSQREPADPEGNTETDHSWTCAASSS*

Gene Symbol:AMZ1
Accession:NM_001321766
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQVSWV
NPVASATAGN*

Gene Symbol:AMZ1
Accession:XM_017011776
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVGGGSGAGKRGQEGAV*

Gene Symbol:AMZ1
Accession:XM_017011774
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS
HLPEEAAACPGFQAHREVPGELGEPSSFSHSWELKQHLKSLSFSQREPADPEGNTETDHSWTCAASSS*

Gene Symbol:AMZ1
Accession:NM_001384742
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS
HLPEEAAACPGFQAHREVPGPGKRREALPPTMALCASLHPPTPPTRARLCVGPAGNSG*

Gene Symbol:AMZ1
Accession:NM_001384740
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQNVKV
QRSWPLTLATLWPPCPVCSLVAVPVDTSSPSLAHSHPLVTAVRPQEELHRVLGRGAASTTVSSGSAGCVLGVCRVAVTGV
PRRAPKAPAPLPGFFLYVFIR*

Gene Symbol:AMZ1
Accession:NM_001384741
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS
HLPEEAAACPGFQAHREVPELAGWLV*

Gene Symbol:AMZ1
Accession:NM_001384743
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYT
WTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEPGTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGP
AEAIKEHERWLAMCIQALQREVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSA
RKLARAESAPRPWDGEES*

Gene Symbol:AMZ1
Accession:NM_001384739
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQD
RGWALCFSALGMVQCCKGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERYQRLYTWTQAVVGTWPSQEAGEPSVWEDT
PPASADSGMCCESDSEPGTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGPAEAIKEHERWLAMCIQALQREVA
EEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSARKLARAESAPRPWDGEES*

Gene Symbol:AMZ1
Accession:XM_047419926
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTF
HASLQHRKPRLARKHIYLQPIDLSEEPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGI
LSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHGHVPRALPPSGPGELPLAPLPHAGCAQPGRGPAAAPGPLS
HLPEEAAACPGFQAHREVPETLHLDSGGGGDVAQPGGGGAVSVGGHPACQRRLGHVL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000933232 CLINVAR
dbSNP (RS) rs1583172032 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AMZ1 CLINVAR
OMIM 615168 CLINVAR