RGD:8595401 Rat Genome Database

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Variant: RGD:8595401 -  Homo sapiens

RGD ID: 8595401
RS ID: rs118204093
ClinVar ID: CV16541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACOX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,953,636
GRCh38 17 75,957,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008190.1:g.26809C>T
NC_000017.11:g.75957555G>A
NC_000017.10:g.73953636G>A
NP_004026.2:p.Arg148Ter
More... 		11/30/2017 nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000 none provided; Peroxisomal acyl-CoA oxidase deficiency; Pseudoadrenoleukodystrophy; Pseudoneonatal adrenoleukodystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACOX1
Accession:XM_047436183
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLCGLKRTHL*GLETTATYDPETQEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGKCYGLHAFIVPIREIGTHK
PLPGITVGDIGPKFGYDEIDNGYLKMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKA
CTIAIRYSAVRHQSEIKPGEPEPQILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEGIGQGDLSELPELHALTAG
LKAFTSWTANTGIEACRMACGGHGYSHCSGLPNIYVNFTPSCTFEGENTVMMLQTARFLMKSYDQVHSGKLVCGMVSYLN
DLPSQRIQPQQVAVWPTMVDINSPESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVRASEAHCHYVVV
KLFSEKLLKIQDKAIQAVLRSLCLLYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIRSDAVALVDAFDFQDVT
LGSVLGRYDGNVYENLFEWAKNSPLNKAEVHESYKHLKSLQSKL*

Gene Symbol:ACOX1
Accession:NM_004035
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPDLRRERDSASFNPELLTHILDGSPEKTRRRREIENMILNDPDFQHEDLNFLTRSQRYEVAVRKSAIMVKKMREFGIA
DPDEIMWFKNFVHRGRPEPLDLHLGMFLPTLLHQATAEQQERFFMPAWNLEIIGTYAQTEMGHGTHL*GLETTATYDPET
QEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGKCYGLHAFIVPIREIGTHKPLPGITVGDIGPKFGYDEIDNGYL
KMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKACTIAIRYSAVRHQSEIKPGEPEPQ
ILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEGIGQGDLSELPELHALTAGLKAFTSWTANTGIEACRMACGGHG
YSHCSGLPNIYVNFTPSCTFEGENTVMMLQTARFLMKSYDQVHSGKLVCGMVSYLNDLPSQRIQPQQVAVWPTMVDINSP
ESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVRASEAHCHYVVVKLFSEKLLKIQDKAIQAVLRSLCL
LYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIRSDAVALVDAFDFQDVTLGSVLGRYDGNVYENLFEWAKNSP
LNKAEVHESYKHLKSLQSKL*

Gene Symbol:ACOX1
Accession:NM_001185039
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILNDPDFQHEDLNFLTRSQRYEVAVRKSAIMVKKMREFGIADPDEIMWFKNFVHRGRPEPLDLHLGMFLPTLLHQATAE
QQERFFMPAWNLEIIGTYAQTEMGHGTHL*GLETTATYDPETQEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGK
CYGLHAFIVPIREIGTHKPLPGITVGDIGPKFGYDEIDNGYLKMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTM
VFVRSFLVGEAARALSKACTIAIRYSAVRHQSEIKPGEPEPQILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEG
IGQGDLSELPELHALTAGLKAFTSWTANTGIEACRMACGGHGYSHCSGLPNIYVNFTPSCTFEGENTVMMLQTARFLMKS
YDQVHSGKLVCGMVSYLNDLPSQRIQPQQVAVWPTMVDINSPESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNL
TSVDLVRASEAHCHYVVVKLFSEKLLKIQDKAIQAVLRSLCLLYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTL
IRSDAVALVDAFDFQDVTLGSVLGRYDGNVYENLFEWAKNSPLNKAEVHESYKHLKSLQSKL*

Gene Symbol:ACOX1
Accession:XM_047436182
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAFIQRTPDNWHLRPDGNGPRFVHRGRPEPLDLHLGMFLPTLLHQATAEQQERFFMPAWNLEIIGTYAQTEMGHGTHL*
GLETTATYDPETQEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGKCYGLHAFIVPIREIGTHKPLPGITVGDIGP
KFGYDEIDNGYLKMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKACTIAIRYSAVRH
QSEIKPGEPEPQILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEGIGQGDLSELPELHALTAGLKAFTSWTANTG
IEACRMACGGHGYSHCSGLPNIYVNFTPSCTFEGENTVMMLQTARFLMKSYDQVHSGKLVCGMVSYLNDLPSQRIQPQQV
AVWPTMVDINSPESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVRASEAHCHYVVVKLFSEKLLKIQD
KAIQAVLRSLCLLYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIRSDAVALVDAFDFQDVTLGSVLGRYDGNV
YENLFEWAKNSPLNKAEVHESYKHLKSLQSKL*

Gene Symbol:ACOX1
Accession:NM_007292
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPDLRRERDSASFNPELLTHILDGSPEKTRRRREIENMILNDPDFQHEDLNFLTRSQRYEVAVRKSAIMVKKMREFGIA
DPDEIMWFKKLHLVNFVEPVGLNYSMFIPTLLNQGTTAQKEKWLLSSKGLQIIGTYAQTEMGHGTHL*GLETTATYDPET
QEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGKCYGLHAFIVPIREIGTHKPLPGITVGDIGPKFGYDEIDNGYL
KMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKACTIAIRYSAVRHQSEIKPGEPEPQ
ILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEGIGQGDLSELPELHALTAGLKAFTSWTANTGIEACRMACGGHG
YSHCSGLPNIYVNFTPSCTFEGENTVMMLQTARFLMKSYDQVHSGKLVCGMVSYLNDLPSQRIQPQQVAVWPTMVDINSP
ESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVRASEAHCHYVVVKLFSEKLLKIQDKAIQAVLRSLCL
LYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIRSDAVALVDAFDFQDVTLGSVLGRYDGNVYENLFEWAKNSP
LNKAEVHESYKHLKSLQSKL*
Variant Samples
Additional References at PubMed
PMID:17458872  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001567 CLINVAR
  RCV000579187 CLINVAR
dbSNP (RS) rs118204093 CLINVAR
MedGen C1849678 CLINVAR
  CN517202 CLINVAR
NCBI Gene ACOX1 CLINVAR
OMIM 264470 CLINVAR
  609751 CLINVAR
OMIM Allele 609751.0005 CLINVAR
SNOMED CT 238069004 CLINVAR