RGD:405108821 Rat Genome Database

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Variant: RGD:405108821 -  Homo sapiens

RGD ID: 405108821
ClinVar ID: CV3136732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHPK  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 3,526,778
GRCh38 17 3,623,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.3623484A>G
NC_000017.10:g.3526778A>G
NP_037408.2:p.Phe168Leu
NM_013276.4:c.502T>C
More... 		11/23/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SHPK
Accession:NM_013276
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAARPITLGIDLGTTSVKAALLRAAPDDPSGFAVLASCARAARAEAAVESAVAGPQGREQDVSRILQALHECLAALPRPQ
LRSVVGIGVSGQMHGVVFWKTGQGCEWTEGGITPVFEPRAVSHLVTWQDGRCSSEFLASLPQPKSHLSVATGFGCATIFW
LLKYRPELLKSYDAAGTIHDYVVAMLCGLPRPLMSDQNAASWGYFNTQSQSWNVETLRSSGFPVHLLPDIAEPGSVAGRT
SHMWFEIPKGTQVGVALGDLQASVYSCMAQRTDAVLNISTSVQLAASMPSGFQPAQTPDPTAPVAYFPYFNRTYLGVAAS
LNGGNVLATFVHMLVQWMADLGLEVEESTVYSRMIQAAVQQRDTHLTITPTVLGERHLPDQLASVTRISSSDLSLGHVTR
ALCRGIVQNLHSMLPIQQLQEWGVERVMGSGSALSRNDVLKQEVQRAFPLPMSFGQDVDAAVGAALVMLRRHLNQKES*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003835886 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SHPK CLINVAR
OMIM 605060 CLINVAR