Carrier testing - OMIM - NCBI

Carrier testing - OMIM - NCBI



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

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• Search OMIM for "Carrier testing" 

*612730 - SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 8; SLC9A8

Cytogenetic locations: 20q13.13

OMIM:

 

612730

Gene summaries Genetic tests Medical literature

Select item 6043222.

*604322 - SOLUTE CARRIER FAMILY 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5

Cytogenetic locations: 6q13

OMIM:

 

604322

Gene summaries Genetic tests Medical literature

Select item 1032203.

*103220 - SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4

Cytogenetic locations: 4q35.1

OMIM:

 

103220

Gene summaries Genetic tests Medical literature

Select item 6138684.

*613868 - SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 1; SLC14A1

Cytogenetic locations: 18q12.3

OMIM:

 

613868

Gene summaries Genetic tests Medical literature

Select item 1823095.

*182309 - SOLUTE CARRIER FAMILY 34 (TYPE II SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 1; SLC34A1

Cytogenetic locations: 5q35.3

OMIM:

 

182309

Gene summaries Genetic tests Medical literature

Select item 6155856.

*615585 - SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 8; SLC38A8

Cytogenetic locations: 16q23.3

OMIM:

 

615585

Gene summaries Genetic tests Medical literature

Select item 6111457.

*611145 - SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8

Cytogenetic locations: 8q24.11

OMIM:

 

611145

Gene summaries Genetic tests Medical literature

Select item 3000368.

*300036 - SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8

Cytogenetic locations: Xq28

OMIM:

 

300036

Gene summaries Genetic tests Medical literature

Select item 6012959.

*601295 - SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 2; SLC10A2

Cytogenetic locations: 13q33.1

OMIM:

 

601295

Gene summaries Genetic tests Medical literature

Select item 60494310.

*604943 - SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5

SLC26A5A, INCLUDED

Cytogenetic locations: 7q22.1

OMIM:

 

604943

Gene summaries Genetic tests Medical literature

Select item 60620211.

*606202 - SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2

Cytogenetic locations: 5p13.2

OMIM:

 

606202

Gene summaries Genetic tests Medical literature

Select item 30280312.

302803 - CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA

OMIM:

 

302803

Gene summaries Genetic tests Medical literature

Select item 14180013.

+141800 - HEMOGLOBIN--ALPHA LOCUS 1; HBA1

METHEMOGLOBINEMIA, ALPHA-GLOBIN TYPE, INCLUDED

Cytogenetic locations: 16p13.3

OMIM:

 

141800

Gene summaries Genetic tests Medical literature

Select item 30900014.

#309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL

Cytogenetic locations: Xq26.1

OMIM:

 

309000

Gene summaries Genetic tests Medical literature

Select item 30003015.

%300030 - DEAFNESS, X-LINKED 3; DFNX3

Cytogenetic locations: Xp21.2

OMIM:

 

300030

Gene summaries Genetic tests Medical literature

Select item 30055816.

#300558 - MENTAL RETARDATION, X-LINKED 30; MRX30

Cytogenetic locations: Xq23

OMIM:

 

300558

Gene summaries Genetic tests Medical literature

Select item 30310017.

#303100 - CHOROIDEREMIA; CHM

CHOROIDAL SCLEROSIS, INCLUDED

Cytogenetic locations: Xq21.2

OMIM:

 

303100

Gene summaries Genetic tests Medical literature

Select item 30050018.

#300500 - ALBINISM, OCULAR, TYPE I; OA1

Cytogenetic locations: Xp22.2

OMIM:

 

300500

Gene summaries Genetic tests Medical literature

Select item 31070019.

#310700 - NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1

NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED; XIPAN, INCLUDED

Cytogenetic locations: Xq26.2

OMIM:

 

310700

Gene summaries Genetic tests Medical literature

Select item 30035220.

#300352 - CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Cytogenetic locations: Xq28

OMIM:

 

300352

Gene summaries Genetic tests Medical literature