Product Details

SNP ID
rs139569882
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53193013 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTGTGGGCAGGGCAGATGCAGC[C/T]GGGGAGTCAGAGTGGAGAAAGGGGC
Phenotype
MIM: 314690
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KDM5C PubMed Links

Gene Details

Gene
KDM5C
Gene Name
lysine demethylase 5C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146702.1 4905 Intron NP_001140174.1
NM_001282622.1 4905 Missense Mutation CAG,CGG Q1545R NP_001269551.1
NM_004187.3 4905 Missense Mutation CAG,CGG Q1546R NP_004178.2
XM_005262035.4 4905 Missense Mutation CAG,CGG Q1543R XP_005262092.1
XM_011530824.2 4905 Missense Mutation CAG,CGG Q1520R XP_011529126.1
XM_011530825.2 4905 Missense Mutation CAG,CGG Q1505R XP_011529127.1
XM_011530826.2 4905 Missense Mutation CAG,CGG Q1502R XP_011529128.1
XM_011530827.2 4905 Intron XP_011529129.1
XM_011530828.1 4905 Intron XP_011529130.1
XM_011530829.2 4905 Missense Mutation CAG,CGG Q1381R XP_011529131.1
XM_011530830.2 4905 Missense Mutation CAG,CGG Q1381R XP_011529132.1
XM_011530831.2 4905 Missense Mutation CAG,CGG Q1218R XP_011529133.1
XM_017029886.1 4905 Intron XP_016885375.1
XM_017029887.1 4905 Intron XP_016885376.1
XM_017029888.1 4905 Intron XP_016885377.1
XM_017029889.1 4905 Intron XP_016885378.1
Gene
MIR6894
Gene Name
microRNA 6894
There are no transcripts associated with this gene.

Gene
MIR6895
Gene Name
microRNA 6895
There are no transcripts associated with this gene.

View Full Product Details