RGD:15196436 Rat Genome Database

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Variant: RGD:15196436 -  Homo sapiens

RGD ID: 15196436
RS ID: rs142811772
ClinVar ID: CV698519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UCHL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 41,263,916
GRCh38 4 41,261,899
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004181.5:c.435C>T
NG_012931.1:g.10019C>T
NC_000004.12:g.41261899C>T
NC_000004.11:g.41263916C>T
More... 		05/31/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UCHL1
Accession:NM_004181
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVY
FMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSETEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNF
HFILFNNVDGHLYELDGRMPFPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000956191 CLINVAR
dbSNP (RS) rs142811772 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UCHL1 CLINVAR
OMIM 191342 CLINVAR