rs370660240 Rat Genome Database

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Variant: rs370660240 -  Homo sapiens

RGD ID: 21072824
RS ID: rs370660240
ClinVar ID: CV793249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 4,830,380
GRCh38 7 4,790,749
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1247t1:c.2015A>C
NM_001364858.1:c.1547A>C
NM_014855.3:c.2015A>C
NC_000007.14:g.4790749A>C
More... 		01/31/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AP5Z1
Accession:XM_047421098
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 560
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFQHLGVQSEGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQG
LPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGS
TLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKGDSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKA
LHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRIPVEQFHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSF
PNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCLTAVLDLQLRSAPAASERPLWDTSLRAPSCLEAFRDP
QFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAVPTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYP
APGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRASLVTSVVWAIGEYLSVTYDRRCTVEQINKFFA
ALEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRASLLLSKMRTLAHSPATSSTHSEEGAEAIRTRAT
ELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSRLVEREAGLMPG*

Gene Symbol:AP5Z1
Accession:NM_014855
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 672
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSAGAESLLHQAREIQDEELKKFCSRICKLLQAEDLGPDTLDSLQRLFLIISATKYSRRLEKTCVDLLQATLGLPACPE
QLQVLCAAILREMSPSDSLSLAWDHTQNSRQLSLVASVLLAQGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKV
VVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNV
QAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKGDSDL
QKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRIPVEQ
FHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSFPNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCLTAVL
DLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAVPTLL
QAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRA
SLVTSVVWAIGEYLSVTYDRRCTVEQINKFFAALEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRAS
LLLSKMRTLAHSPATSSTHSEEGAEAIRTRATELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSRLVER
EAGLMPG*

Gene Symbol:AP5Z1
Accession:NM_001364858
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 516
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQ
WLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKG
DSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRI
PVEQFHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSFPNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCL
TAVLDLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAV
PTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGL
CSRASLVTSVVWAIGEYLSVTYDRRCTVEQINKFFAALEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLI
PRASLLLSKMRTLAHSPATSSTHSEEGAEAIRTRATELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSR
LVEREAGLMPG*

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 RCV000991540 CLINVAR
dbSNP (RS) rs370660240 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613653 CLINVAR