RGD:156250274 Rat Genome Database

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Pathways
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Variant: RGD:156250274 -  Homo sapiens

RGD ID: 156250274
ClinVar ID: CV2199686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-2  LOC127894945  TSPEAR  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,970,678
GRCh38 21 44,550,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001272037.2:c.100-16872T>A
NM_144991.3:c.304-16872T>A
NM_198693.4:c.664T>A
NG_033806.2:g.165777T>A
More... 		12/13/2021 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-2
Accession:NM_198693
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSICSSACTNSWQVDDCPESCCELPCGTPSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSACQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCVPVCCGASSCCQQSSCQPACCASSSCQQSCRVPVCCKAVCCVPTCSESSS
SCCQQSSCQPACCTSSPCQQSCCVSVCCKPVCCKSICCVPVCSGASSPCCQQSSCQPACCTSSCCRPSSSVSLLCRPVCS
RPASCSFSSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Gene Symbol:KRTAP10-2
Accession:NR_130165
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004072422 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP10-2 CLINVAR
  TSPEAR CLINVAR
OMIM 612920 CLINVAR