RGD:8628628 Rat Genome Database

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Variant: RGD:8628628 -  Homo sapiens

RGD ID: 8628628
ClinVar ID: CV83772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-3  TSPEAR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,978,512
GRCh38 21 44,558,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144991.2:c.303+9156C>T
NM_198696.2:c.87C>T
NP_941969.2:p.Pro29=
NC_000021.7:g.44802940G>A
More...
synonymous variant|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-3
Accession:NM_198696
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTMSVCSSAYSDSWQVDACPESCCEPPCCATSCCAPAPCLTLVCTPVSCVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCVPVCCKPVCCKPICCVPVCSGASSSCCQQSSRQPACCTTSCCRPSSSVSL
LCRPVCRSTCCVPIPSCCAPASTCQPSCCRPASCVSLLCRPTCSRLSSACCGLSSGQKSSC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Variant Samples