ClinVar

NM_000511.6(FUT2):c.412C>T (p.Arg138Cys)

Genes:

FUT2:fucosyltransferase 2 [Gene - OMIM - HGNC]
LOC105447645:uncharacterized LOC105447645 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 48703368 (on Assembly GRCh38)
• Chr19: 49206625 (on Assembly GRCh37)

Preferred name:

NM_000511.6(FUT2):c.412C>T (p.Arg138Cys)

HGVS:

• NC_000019.10:g.48703368C>T
• NG_007511.1:g.12398C>T
• NM_000511.6:c.412C>TMANE SELECT
• NM_001097638.3:c.412C>T
• NP_000502.4:p.Arg138Cys
• NP_001091107.1:p.Arg138Cys
• LRG_811t1:c.412C>T
• LRG_811:g.12398C>T
• LRG_811p1:p.Arg138Cys
• NC_000019.9:g.49206625C>T
• NR_131188.1:n.481G>A

This HGVS expression did not pass validation

Protein change:

R138C

Links:

dbSNP: rs1800022

NCBI 1000 Genomes Browser:

rs1800022

Molecular consequence:

• NM_000511.6:c.412C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001097638.3:c.412C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_131188.1:n.481G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]