Product Details

SNP ID

rs201220623

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:44873631 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGATGAGGAAAAGAAAATGGCGG[C/G]GGGAAAAGCGAGCGGCGAGAGCGAG

Phenotype

MIM: 300128

Polymorphism

C/G, Transversion 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	457	Missense Mutation	GCG,GGG	A27G	NP_001278344.1
NM_001291416.1	457	Missense Mutation	GCG,GGG	A27G	NP_001278345.1
NM_001291417.1	457	Missense Mutation	GCG,GGG	A27G	NP_001278346.1
NM_001291418.1	457	Missense Mutation	GCG,GGG	A27G	NP_001278347.1
NM_001291421.1	457	UTR 5			NP_001278350.1
NM_021140.3	457	Missense Mutation	GCG,GGG	A27G	NP_066963.2
XM_005272656.4	457	Missense Mutation	GCG,GGG	A27G	XP_005272713.1
XM_005272659.4	457	Missense Mutation	GCG,GGG	A27G	XP_005272716.1
XM_011543957.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542259.1
XM_011543958.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542260.1
XM_011543959.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542261.1
XM_011543960.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542262.1
XM_011543961.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542263.1
XM_011543962.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542264.1
XM_011543963.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542265.1
XM_011543964.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542266.1
XM_011543965.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542267.1
XM_011543966.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542268.1
XM_011543967.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542269.1
XM_011543968.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542270.1
XM_011543969.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542271.1
XM_011543970.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542272.1
XM_011543971.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542273.1
XM_011543972.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542274.1
XM_011543973.2	457	Missense Mutation	GCG,GGG	A27G	XP_011542275.1
XM_011543974.1	457	Missense Mutation	GCG,GGG	A27G	XP_011542276.1
XM_011543975.2	457	Intron			XP_011542277.1
XM_017029782.1	457	Missense Mutation	GCG,GGG	A27G	XP_016885271.1
XM_017029783.1	457	Missense Mutation	GCG,GGG	A27G	XP_016885272.1
XM_017029784.1	457	UTR 5			XP_016885273.1
XM_017029785.1	457	UTR 5			XP_016885274.1

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