Entrez Gene

Basic Information
Gene ID	55652
Name	SLC48A1
Synonymous	solute carrier family 48 (heme transporter), member 1;SLC48A1;solute carrier family 48 (heme transporter), member 1
Definition	heme transporter HRG1\|heme-responsive gene 1 protein homolog\|solute carrier family 48 member 1
Position	12q13.11
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.15C>T; p.T5T; 12:47780240-47780240	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.510T>G; p.I170M; 12:47780735-47780735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.323C>A; p.S108Y; 12:47780548-47780548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.86G>A; p.G29E; 12:47780311-47780311	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700A>G; p.S234G; 12:47780925-47780925	pancreas	carcinoma	Substitution - Missense
c.48G>A; p.A16A; 12:47780273-47780273	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.143C>T; p.P48L; 12:47780368-47780368	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.333_346del14; p.L115fs*15; 12:47780558-47780571	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.196C>T; p.P66S; 12:47780421-47780421	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.333_347del15; p.F116_L120delFFFFL; 12:47780558-47780572	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.82_83insG; p.L31fs*2; 12:47780307-47780308	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.47C>T; p.A16V; 12:47780272-47780272	liver	carcinoma	Substitution - Missense
c.47C>T; p.A16V; 12:47780272-47780272	liver	carcinoma	Substitution - Missense
c.46G>T; p.A16S; 12:47780271-47780271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]