ClinVar

NM_005385.4(NKTR):c.3919G>A (p.Asp1307Asn)

Genes:

ZBTB47-AS1:ZBTB47 and NKTR antisense RNA 1 [Gene - HGNC]
NKTR:natural killer cell triggering receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

• Chr3: 42639623 (on Assembly GRCh38)
• Chr3: 42681115 (on Assembly GRCh37)

Preferred name:

NM_005385.4(NKTR):c.3919G>A (p.Asp1307Asn)

HGVS:

• NC_000003.12:g.42639623G>A
• NM_001349124.2:c.3919G>A
• NM_001349125.2:c.3160G>A
• NM_001349126.2:c.2815G>A
• NM_005385.4:c.3919G>AMANE SELECT
• NP_001336053.1:p.Asp1307Asn
• NP_001336054.1:p.Asp1054Asn
• NP_001336055.1:p.Asp939Asn
• NP_005376.2:p.Asp1307Asn
• NC_000003.11:g.42681115G>A

This HGVS expression did not pass validation

Protein change:

D1054N

Links:

dbSNP: rs2125821372

NCBI 1000 Genomes Browser:

rs2125821372

Molecular consequence:

• NM_001349124.2:c.3919G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349125.2:c.3160G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349126.2:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005385.4:c.3919G>A - missense variant - [Sequence Ontology: SO:0001583]