Product Details

SNP ID
rs1050808
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.Y:19707292 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCAACAGAGCAGTCACATCTTCA[G/A]AGGCCAGAGCCTTTCTGGCACGGTC
Phenotype
MIM: 426000
Polymorphism
G/A, Transition 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 4319 Missense Mutation TCT,TTT S1316F NP_001140177.1
NM_001146706.1 4319 Missense Mutation TCT,TTT S1228F NP_001140178.1
NM_004653.4 4319 Missense Mutation TCT,TTT S1285F NP_004644.2
XM_005262560.2 4319 Missense Mutation TCT,TTT S1240F XP_005262617.1
XM_005262561.2 4319 Missense Mutation TCT,TTT S1208F XP_005262618.1
XM_011531468.2 4319 Missense Mutation TCT,TTT S1259F XP_011529770.1

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