RGD:8696277 Rat Genome Database

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Variant: RGD:8696277 -  Homo sapiens

RGD ID: 8696277
RS ID: rs281875374
ClinVar ID: CV150194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZMPSTE24  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 40,758,162
GRCh38 1 40,292,490
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_212:g.39430C>T
NG_008695.1:g.39430C>T
NC_000001.11:g.40292490C>T
NC_000001.10:g.40758162C>T
More... 		nonsense not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:ZMPSTE24
Accession:XM_047427582
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRQLDELILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFF
MKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAK
SIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQG
CKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVL
SFCLTVLSRRFEF*ADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH*

Gene Symbol:ZMPSTE24
Accession:NM_005857
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFW
SGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTL
GFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEV
MAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNK
KQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYN
EVLSFCLTVLSRRFEF*ADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH*

Gene Symbol:ZMPSTE24
Accession:XM_047427590
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15843403  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000128729 CLINVAR
dbSNP (RS) rs281875374 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 606480 CLINVAR