Product Details

SNP ID

rs200152259

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:44873709 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGGGAGGCGCTCGGCGGACTGG[A/G]CAGGTACGGGCCGCCGTCACTCGCC

Phenotype

MIM: 300128

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KDM6A PubMed Links

Gene Details

Gene

KDM6A

Gene Name

lysine demethylase 6A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291415.1	535	Missense Mutation	GAC,GGC	D53G	NP_001278344.1
NM_001291416.1	535	Missense Mutation	GAC,GGC	D53G	NP_001278345.1
NM_001291417.1	535	Missense Mutation	GAC,GGC	D53G	NP_001278346.1
NM_001291418.1	535	Missense Mutation	GAC,GGC	D53G	NP_001278347.1
NM_001291421.1	535	UTR 5			NP_001278350.1
NM_021140.3	535	Missense Mutation	GAC,GGC	D53G	NP_066963.2
XM_005272656.4	535	Missense Mutation	GAC,GGC	D53G	XP_005272713.1
XM_005272659.4	535	Missense Mutation	GAC,GGC	D53G	XP_005272716.1
XM_011543957.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542259.1
XM_011543958.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542260.1
XM_011543959.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542261.1
XM_011543960.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542262.1
XM_011543961.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542263.1
XM_011543962.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542264.1
XM_011543963.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542265.1
XM_011543964.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542266.1
XM_011543965.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542267.1
XM_011543966.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542268.1
XM_011543967.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542269.1
XM_011543968.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542270.1
XM_011543969.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542271.1
XM_011543970.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542272.1
XM_011543971.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542273.1
XM_011543972.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542274.1
XM_011543973.2	535	Missense Mutation	GAC,GGC	D53G	XP_011542275.1
XM_011543974.1	535	Missense Mutation	GAC,GGC	D53G	XP_011542276.1
XM_011543975.2	535	Intron			XP_011542277.1
XM_017029782.1	535	Missense Mutation	GAC,GGC	D53G	XP_016885271.1
XM_017029783.1	535	Missense Mutation	GAC,GGC	D53G	XP_016885272.1
XM_017029784.1	535	UTR 5			XP_016885273.1
XM_017029785.1	535	UTR 5			XP_016885274.1

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