rs778239868 Rat Genome Database

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Variant: rs778239868 -  Homo sapiens

RGD ID: 151754394
RS ID: rs778239868
ClinVar ID: CV1335928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP5Z1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 4,830,841
GRCh38 7 4,791,210
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1247t1:c.2249G>A
NM_001364858.1:c.1781G>A
NM_014855.3:c.2249G>A
LRG_1247:g.20580G>A
More... 		12/12/2016 missense variant uncertain significance Familial spastic paraparesis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AP5Z1
Accession:XM_047421098
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 638
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFQHLGVQSEGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQG
LPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGS
TLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKGDSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKA
LHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRIPVEQFHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSF
PNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCLTAVLDLQLRSAPAASERPLWDTSLRAPSCLEAFRDP
QFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAVPTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYP
APGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRASLVTSVVWAIGEYLSVTYDRRCTVEQINKFFE
ALEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRASLLLSKMRTLAHSPATSSTHSEEGAEAIRTQAT
ELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSRLVEREAGLMPG*

Gene Symbol:AP5Z1
Accession:NM_001364858
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 594
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKVVVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQ
WLNVQAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKG
DSDLQKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRI
PVEQFHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSFPNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCL
TAVLDLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAV
PTLLQAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGL
CSRASLVTSVVWAIGEYLSVTYDRRCTVEQINKFFEALEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLI
PRASLLLSKMRTLAHSPATSSTHSEEGAEAIRTQATELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSR
LVEREAGLMPG*

Gene Symbol:AP5Z1
Accession:NM_014855
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 750
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSAGAESLLHQAREIQDEELKKFCSRICKLLQAEDLGPDTLDSLQRLFLIISATKYSRRLEKTCVDLLQATLGLPACPE
QLQVLCAAILREMSPSDSLSLAWDHTQNSRQLSLVASVLLAQGDRNEEVRAVGQGVLRALESRQPEGPSLRHLLPVMAKV
VVLSPGTLQEDQATLLSKRLVDWLRYASLQQGLPHSGGFFSTPRARQPGPVTEVDGAVATDFFTVLSSGHRFTDDQWLNV
QAFSMLRAWLLHSGPEGPGTLDTDDRSEQEGSTLSVISATSSAGRLLPPRERLREVAFEYCQRLIEQSNRRALRKGDSDL
QKACLVEAVLVLDVLCRQDPSFLYRSLSCLKALHGRVRGDPASVRVLLPLAHFFLSHGEAAAVDSEAVYQHLFTRIPVEQ
FHSPMLAFEFIQFCRDNLHLFSGHLSTLRLSFPNLFKFLAWNSPPLTSEFVALLPALVDAGTALEMLHALLDLPCLTAVL
DLQLRSAPAASERPLWDTSLRAPSCLEAFRDPQFQGLFQYLLRPKASGATERLAPLHQLLQPMAGCARVAQCAQAVPTLL
QAFFSAVTQVADGSLINQLALLLLGRSDSLYPAPGYAAGVHSVLSSQFLALCTLKPSLVVELARDLLEFLGSVNGLCSRA
SLVTSVVWAIGEYLSVTYDRRCTVEQINKFFEALEALLFEVTQCRPSAALPRCPPQVVTVLMTTLTKLASRSQDLIPRAS
LLLSKMRTLAHSPATSSTHSEEGAEAIRTQATELLTLLKMPSVAQFVLTPSTEVCSPRYHRDANTALPLALRTVSRLVER
EAGLMPG*

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001848328 CLINVAR
dbSNP (RS) rs778239868 CLINVAR
MedGen C0037773 CLINVAR
NCBI Gene AP5Z1 CLINVAR
OMIM 613653 CLINVAR
SNOMED CT 39912006 CLINVAR