RGD:401920176 Rat Genome Database

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Variant: RGD:401920176 -  Homo sapiens

RGD ID: 401920176
ClinVar ID: CV2821831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-5  LOC127894949  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,000,284
GRCh38 21 44,580,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033806.2:g.136165C>T
NG_033806.1:g.136172C>T
NG_144581.1:g.169G>A
NG_144580.1:g.760G>A
More... 		10/01/2023 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSPEAR
Accession:NM_001272037
Location:5UTRS;INTRON

Gene Symbol:KRTAP10-5
Accession:NM_198694
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAACTMSVCSSACSDSWRVDDCPESCCEPPCGTAPCLTLVCTPVSCVSSPCCQAACETSPCQSGCTSSCTPSCCQPACCA
SSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSCQQSCCVPVCCKPVCCVPTCSEDSSSCCQHSSCQP
TCCTSSPCQQSCYVPVCCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPICRPACCLPISSC
CAPASSYQASCCRPASCVSLLCRPACSPLAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003431560 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRTAP10-5 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR