SLC17A5


Solute carrier family 17, member 5

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
SD

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
c.1007-1008del 13 Novel amino acids, premature stop 10947946
c.115C>T R39C AJ387747 10581036
c.406A>G K136E 10947946
c.525-818del 11992753
c.526-819del 10947946


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
c.1007-1008del 13 Novel amino acids, premature stop Swedish 10947946
c.1138-1139del Frameshift, 7 novel amino acids, premature stop English 10947946
c.115C>T R39C AJ387747 English, German, Swedish, Dutch, Italian 10581036
c.1226G>A G409E Caucasian 15172001
c.291G>A a splicing defect Caucasian 15172001
c.292-611del German 10947946
c.309G>A W103X Swedish 10947946
c.406A>G K136E Italian 10947946
c.719G>A W240X Swedish 10947946
c.802_816del15 Deletion of 5 aa English, Italian 12121352, 10947946
c.95-291del Removes splice site, deletion of exon 2 Swedish 10947946
c.983G>A G328E Bedouin 15172005