Product Details

SNP ID
rs144535196
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7845918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCCGCTTCCTGCTCCCCTACCC[C/T]CTTCACATGGCAGTAGTTCTGGGCA
Phenotype
MIM: 611577
Polymorphism
C/T, Transition 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 1566 Missense Mutation CCT,TCT P62S NP_001073893.1
XM_005256549.3 1566 Missense Mutation CCT,TCT P62S XP_005256606.1
XM_005256550.4 1566 Missense Mutation CCT,TCT P62S XP_005256607.1
XM_005256551.3 1566 Missense Mutation CCT,TCT P62S XP_005256608.1
XM_005256552.4 1566 Missense Mutation CCT,TCT P62S XP_005256609.1
XM_006721483.3 1566 Missense Mutation CCT,TCT P62S XP_006721546.1
XM_011523750.2 1566 Missense Mutation CCT,TCT P62S XP_011522052.1
XM_011523752.2 1566 Missense Mutation CCT,TCT P62S XP_011522054.1
XM_017024381.1 1566 Missense Mutation CCT,TCT P62S XP_016879870.1
Gene
TMEM88
Gene Name
transmembrane protein 88
There are no transcripts associated with this gene.

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