Product Details

SNP ID
rs200647645
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7846163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGCTCCGGGAGCCAGCCCAGCCA[C/G]GGCTTTGGGAACAGCTTGGGCAACT
Phenotype
MIM: 611577
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KDM6B PubMed Links

Gene Details

Gene
KDM6B
Gene Name
lysine demethylase 6B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080424.1 1704 Missense Mutation CGG,GGG R108G NP_001073893.1
XM_005256549.3 1704 Missense Mutation CGG,GGG R108G XP_005256606.1
XM_005256550.4 1704 Missense Mutation CGG,GGG R108G XP_005256607.1
XM_005256551.3 1704 Missense Mutation CGG,GGG R108G XP_005256608.1
XM_005256552.4 1704 Missense Mutation CGG,GGG R108G XP_005256609.1
XM_006721483.3 1704 Missense Mutation CGG,GGG R108G XP_006721546.1
XM_011523750.2 1704 Missense Mutation CGG,GGG R108G XP_011522052.1
XM_011523752.2 1704 Missense Mutation CGG,GGG R108G XP_011522054.1
XM_017024381.1 1704 Missense Mutation CGG,GGG R108G XP_016879870.1
Gene
TMEM88
Gene Name
transmembrane protein 88
There are no transcripts associated with this gene.

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