Variant (rsID / SNP)

rs1800454

rs1800454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAP2. Location: chromosome 6, position 32,800,412. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TAP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:32800412
Cytoband: 6p21.32
HGVS: NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile)
Allele change: Missense_V379I

Associated conditions / phenotypes

PEPTIDE TRANSPORTER PSF2 POLYMORPHISM|MHC class I deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.