Product Details

SNP ID
rs201122015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.Y:19706308 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCGTCGCCTCTCCAGAGCCCGG[A/C]TCCTTGTCCGACTCCCTTGATGTTC
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 4772 Missense Mutation AGC,ATC S1467I NP_001140177.1
NM_001146706.1 4772 Missense Mutation AGC,ATC S1379I NP_001140178.1
NM_004653.4 4772 Missense Mutation AGC,ATC S1436I NP_004644.2
XM_005262560.2 4772 Missense Mutation AGC,ATC S1391I XP_005262617.1
XM_005262561.2 4772 Missense Mutation AGC,ATC S1359I XP_005262618.1
XM_011531468.2 4772 Missense Mutation AGC,ATC S1410I XP_011529770.1

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