Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID TRANSPORTER), MEMBER 1

Synonyms

SLC3A1

ID

http://purl.bioontology.org/ontology/OMIM/104614

altLabel

SLC3A1

RBAT

AMINO ACID TRANSPORTER 1

CYSTINURIA

ATR1

D2H

cui

C1420191

C0010691

Gene Locus

2p16.3

Gene Symbol

SLC3A1

NBAT

ATR1

D2H

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/104614.0006

http://purl.bioontology.org/ontology/OMIM/104614.0007

http://purl.bioontology.org/ontology/OMIM/104614.0002

http://purl.bioontology.org/ontology/OMIM/104614.0008

http://purl.bioontology.org/ontology/OMIM/104614.0003

http://purl.bioontology.org/ontology/OMIM/104614.0005

http://purl.bioontology.org/ontology/OMIM/104614.0004

http://purl.bioontology.org/ontology/OMIM/104614.0009

http://purl.bioontology.org/ontology/OMIM/104614.0001

MIMTYPEMEANING

Gene with known sequence

notation

104614

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID TRANSPORTER), MEMBER 1

tui

T028

T047

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http://purl.bioontology.org/ontology/MESH/D003555 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.01 International Classification of Diseases, Version 10 - Clinical Modification CUI