Product Details

SNP ID

rs146572363

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53194180 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACTGCCCTCTCTGAGGGGGTCAG[A/C]AGCAGGGGCTGCAGGGTAGTTAGGA

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	4265	Missense Mutation	GCT,TCT	A1266S	NP_001140174.1
NM_001282622.1	4265	Missense Mutation	GCT,TCT	A1332S	NP_001269551.1
NM_004187.3	4265	Missense Mutation	GCT,TCT	A1333S	NP_004178.2
XM_005262035.4	4265	Missense Mutation	GCT,TCT	A1333S	XP_005262092.1
XM_011530824.2	4265	Missense Mutation	GCT,TCT	A1307S	XP_011529126.1
XM_011530825.2	4265	Missense Mutation	GCT,TCT	A1292S	XP_011529127.1
XM_011530826.2	4265	Missense Mutation	GCT,TCT	A1292S	XP_011529128.1
XM_011530827.2	4265	Missense Mutation	GCT,TCT	A1333S	XP_011529129.1
XM_011530828.1	4265	Missense Mutation	GCT,TCT	A1333S	XP_011529130.1
XM_011530829.2	4265	Missense Mutation	GCT,TCT	A1168S	XP_011529131.1
XM_011530830.2	4265	Missense Mutation	GCT,TCT	A1168S	XP_011529132.1
XM_011530831.2	4265	Missense Mutation	GCT,TCT	A1005S	XP_011529133.1
XM_017029886.1	4265	Missense Mutation	GCT,TCT	A1332S	XP_016885375.1
XM_017029887.1	4265	Missense Mutation	GCT,TCT	A1333S	XP_016885376.1
XM_017029888.1	4265	Missense Mutation	GCT,TCT	A1332S	XP_016885377.1
XM_017029889.1	4265	Missense Mutation	GCT,TCT	A1333S	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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