Product Details

SNP ID

rs112457565

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53193484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGGTCTGGGGGCTGTCCAGCCT[A/G]CAGCAGCTGCCATATGCTGTGGTTC

Phenotype

MIM: 314690

Polymorphism

A/G, 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	4538	Intron			NP_001140174.1
NM_001282622.1	4538	Nonsense Mutation	CAG,TAG	Q1423*	NP_001269551.1
NM_004187.3	4538	Nonsense Mutation	CAG,TAG	Q1424*	NP_004178.2
XM_005262035.4	4538	Nonsense Mutation	CAG,TAG	Q1421*	XP_005262092.1
XM_011530824.2	4538	Nonsense Mutation	CAG,TAG	Q1398*	XP_011529126.1
XM_011530825.2	4538	Nonsense Mutation	CAG,TAG	Q1383*	XP_011529127.1
XM_011530826.2	4538	Nonsense Mutation	CAG,TAG	Q1380*	XP_011529128.1
XM_011530827.2	4538	Nonsense Mutation	CAG,TAG	Q1424*	XP_011529129.1
XM_011530828.1	4538	Nonsense Mutation	CAG,TAG	Q1424*	XP_011529130.1
XM_011530829.2	4538	Nonsense Mutation	CAG,TAG	Q1259*	XP_011529131.1
XM_011530830.2	4538	Nonsense Mutation	CAG,TAG	Q1259*	XP_011529132.1
XM_011530831.2	4538	Nonsense Mutation	CAG,TAG	Q1096*	XP_011529133.1
XM_017029886.1	4538	Nonsense Mutation	CAG,TAG	Q1423*	XP_016885375.1
XM_017029887.1	4538	Nonsense Mutation	CAG,TAG	Q1421*	XP_016885376.1
XM_017029888.1	4538	Nonsense Mutation	CAG,TAG	Q1420*	XP_016885377.1
XM_017029889.1	4538	Nonsense Mutation	CAG,TAG	Q1421*	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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