RGD:126744208 Rat Genome Database

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Variant: RGD:126744208 -  Homo sapiens

RGD ID: 126744208
ClinVar ID: CV1022050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP12-4  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 46,074,454
GRCh38 21 44,654,537
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033806.1:g.62042C>G
NC_000021.9:g.44654537G>C
NC_000021.8:g.46074454G>C
NP_941971.1:p.Tyr26Ter
More... 		04/13/2018 intron variant pathogenic

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

Gene Symbol:KRTAP12-4
Accession:NM_198698
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHTSHSSGCPMACPGSPCCVPSTCYPPEGYGTSCCCSAPCVALLCRPLCGVSTCCQPACCVPSPCQVACCVPVSCKPVL
CVASFCPTSGCCQPFCPTLVYRPVTWSTPTGC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Variant Samples