别名

ARG315TER,RS200640585,R315X
Allele Registry ID:CA013335
ClinVar ID:91382

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
760316496031649GA
Transcript
ENST00000265849.7

基因序列

NM_000535.6:c.943C>003eT
NP_000526.2:p.Arg315Ter
NC_000007.13:g.6031649G>003eA