RGD:15197917 Rat Genome Database

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Variant: RGD:15197917 -  Homo sapiens

RGD ID: 15197917
RS ID: rs142369790
ClinVar ID: CV761917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZMPSTE24  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 40,756,570
GRCh38 1 40,290,898
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005857.5:c.1104T>C
NG_008695.1:g.37838T>C
NC_000001.11:g.40290898T>C
NC_000001.10:g.40756570T>C
More... 		07/20/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ZMPSTE24
Accession:NM_005857
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFW
SGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTL
GFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEV
MAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNK
KQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYN
EVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH*

Gene Symbol:ZMPSTE24
Accession:XM_047427582
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 285
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRQLDELILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFF
MKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAK
SIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQG
CKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVL
SFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH*

Gene Symbol:ZMPSTE24
Accession:XM_047427590
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000934654 CLINVAR
dbSNP (RS) rs142369790 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 606480 CLINVAR