Product Details

SNP ID
rs145653335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53193845 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACTGTCTCCATTCTCCAGTAAGC[A/C]CTGGACCTGCGGAGGAGAGCAAGAA
Phenotype
MIM: 314690
Polymorphism
A/C, Transversion 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 4313 Missense Mutation GGC,TGC G1282C NP_001140174.1
NM_001282622.1 4313 Missense Mutation GGC,TGC G1348C NP_001269551.1
NM_004187.3 4313 Missense Mutation GGC,TGC G1349C NP_004178.2
XM_005262035.4 4313 Missense Mutation GGC,TGC G1349C XP_005262092.1
XM_011530824.2 4313 Missense Mutation GGC,TGC G1323C XP_011529126.1
XM_011530825.2 4313 Missense Mutation GGC,TGC G1308C XP_011529127.1
XM_011530826.2 4313 Missense Mutation GGC,TGC G1308C XP_011529128.1
XM_011530827.2 4313 Missense Mutation GGC,TGC G1349C XP_011529129.1
XM_011530828.1 4313 Missense Mutation GGC,TGC G1349C XP_011529130.1
XM_011530829.2 4313 Missense Mutation GGC,TGC G1184C XP_011529131.1
XM_011530830.2 4313 Missense Mutation GGC,TGC G1184C XP_011529132.1
XM_011530831.2 4313 Missense Mutation GGC,TGC G1021C XP_011529133.1
XM_017029886.1 4313 Missense Mutation GGC,TGC G1348C XP_016885375.1
XM_017029887.1 4313 Missense Mutation GGC,TGC G1349C XP_016885376.1
XM_017029888.1 4313 Missense Mutation GGC,TGC G1348C XP_016885377.1
XM_017029889.1 4313 Missense Mutation GGC,TGC G1349C 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.

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