ClinVar

NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala)

Genes:

SLCO1B3-SLCO1B7:SLCO1B3-SLCO1B7 readthrough [Gene - HGNC]
SLCO1B3:solute carrier organic anion transporter family member 1B3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.2

Genomic location:

• Chr12: 20858546 (on Assembly GRCh38)
• Chr12: 21011480 (on Assembly GRCh37)

Preferred name:

NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala)

HGVS:

• NC_000012.12:g.20858546T>G
• NG_032071.1:g.52843T>G
• NM_001349920.2:c.250T>G
• NM_019844.4:c.334T>GMANE SELECT
• NP_001336849.1:p.Ser84Ala
• NP_062818.1:p.Ser112Ala
• NC_000012.11:g.21011480T>G
• NM_019844.3:c.334T>G
• Q9NPD5:p.Ser112Ala

This HGVS expression did not pass validation

Protein change:

S112A

Links:

UniProtKB: Q9NPD5#VAR_024645; dbSNP: rs4149117

NCBI 1000 Genomes Browser:

rs4149117

Molecular consequence:

• NM_001349920.2:c.250T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_019844.4:c.334T>G - missense variant - [Sequence Ontology: SO:0001583]