Product Details

SNP ID
rs11549043
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.Y:19706120 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCTTTCAAGAAAGGGCTGTGGT[A/C]TGTGGAAGGTGTCAGGAACATATTT
Phenotype
MIM: 426000
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KDM5D PubMed Links

Gene Details

Gene
KDM5D
Gene Name
lysine demethylase 5D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146705.1 4960 Missense Mutation GAC,TAC D1530Y NP_001140177.1
NM_001146706.1 4960 Missense Mutation GAC,TAC D1442Y NP_001140178.1
NM_004653.4 4960 Missense Mutation GAC,TAC D1499Y NP_004644.2
XM_005262560.2 4960 Missense Mutation GAC,TAC D1454Y XP_005262617.1
XM_005262561.2 4960 Missense Mutation GAC,TAC D1422Y XP_005262618.1
XM_011531468.2 4960 Missense Mutation GAC,TAC D1473Y XP_011529770.1

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