Gene >> B3GALT5
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343118 |
| Start |
39660947:39660947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.388A>G |
| AA Mutation |
p.Asn130Asp(p.N130D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343118 |
| Start |
39660633:39660633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs545552313
|
| CDS Mutation |
c.74T>C |
| AA Mutation |
p.Met25Thr(p.M25T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |