RGD:8628627 Rat Genome Database

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Variant: RGD:8628627 -  Homo sapiens

RGD ID: 8628627
ClinVar ID: CV83771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP10-1  TSPEAR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,959,571
GRCh38 21 44,539,688
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.304-5765A>T
NM_198691.2:c.463A>T
NG_033806.1:g.176891A>T
NC_000021.9:g.44539688T>A
More... 		missense variant|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:KRTAP10-1
Accession:NM_198691
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASTMSVCSSACSDSWQVDACPESCCEPHCCALSCCAPAPCLTLVCTPVSRVSSPCCQAACEPSPCQSGCTSSCTPSCC
QQSSCQPACCTSSPCQQACCVPVCCKPVCCLPTCSKDSSSCCQQSSCQPTCCASSSSQQSCCVPVCCKPVCYVPTCSEDS
SSCCQQSSCHPACCTSSPCQQACCVPVRCKPVCCKPICCVPVCSGASTSCCQQSSCQPACCTTSCCRPSSSVSLLCRPVC
RPACCMPVSSCCAPASSCQASCCRPASCVSLLCRPACSRPAC*

Gene Symbol:TSPEAR
Accession:NM_144991
Location:INTRON

Gene Symbol:TSPEAR
Accession:NM_001272037
Location:INTRON

Variant Samples