RGD:15109095 Rat Genome Database

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Variant: RGD:15109095 -  Homo sapiens

RGD ID: 15109095
RS ID: rs770720628
ClinVar ID: CV746473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZMPSTE24  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 40,747,115
GRCh38 1 40,281,443
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.870A>G
NG_008695.1:g.28383A>G
NC_000001.11:g.40281443A>G
NC_000001.10:g.40747115A>G
More... 		04/18/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ZMPSTE24
Accession:NM_005857
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 290
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: L to L (synonymous)
Amino Acid Position: 207
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 RCV000916268 CLINVAR
dbSNP (RS) rs770720628 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 606480 CLINVAR