rs754422151 Rat Genome Database

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Variant: rs754422151 -  Homo sapiens

RGD ID: 150432045
RS ID: rs754422151
ClinVar ID: CV1246159
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 4,830,383
GRCh38 7 4,790,752
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1247t1:c.2018C>T
NM_001364858.1:c.1550C>T
NM_014855.3:c.2018C>T
LRG_1247:g.20122C>T
More... 		03/15/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AP5Z1
Accession:NM_001364858
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 517
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQ
WLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKG
DSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRI
PVEQFHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSFPNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCL
TAVLDLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAV
PTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGL
CSRASLVTSVVWAIGEYLSVTYDRRCTVEQINKFFEVLEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLI
PRASLLLSKMRTLAHSPATSSTHSEEGAEAIRTRATELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSR
LVEREAGLMPG*

Gene Symbol:AP5Z1
Accession:NM_014855
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 673
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSAGAESLLHQAREIQDEELKKFCSRICKLLQAEDLGPDTLDSLQRLFLIISATKYSRRLEKTCVDLLQATLGLPACPE
QLQVLCAAILREMSPSDSLSLAWDHTQNSRQLSLVASVLLAQGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKV
VVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNV
QAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKGDSDL
QKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRIPVEQ
FHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSFPNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCLTAVL
DLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAVPTLL
QAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRA
SLVTSVVWAIGEYLSVTYDRRCTVEQINKFFEVLEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRAS
LLLSKMRTLAHSPATSSTHSEEGAEAIRTRATELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSRLVER
EAGLMPG*

Gene Symbol:AP5Z1
Accession:XM_047421098
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 561
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFQHLGVQSEGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQG
LPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGS
TLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKGDSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKA
LHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRIPVEQFHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSF
PNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCLTAVLDLQLRSAPAASERPLWDTSLRAPSCLEAFRDP
QFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAVPTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYP
APGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRASLVTSVVWAIGEYLSVTYDRRCTVEQINKFFE
VLEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRASLLLSKMRTLAHSPATSSTHSEEGAEAIRTRAT
ELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSRLVEREAGLMPG*

Gene Symbol:AP5Z1
Accession:NR_157345
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001663571 CLINVAR
dbSNP (RS) rs754422151 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613653 CLINVAR