Product Details

SNP ID

rs146752919

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118532354 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGAGGCCTTCTCTGGAGGCACCA[G/T]CACCTTCACTGTCACTGCCCATCGG

Phenotype

MIM: 159555 MIM: 613934

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KMT2A PubMed Links

Gene Details

Gene

KMT2A

Gene Name

lysine methyltransferase 2A

There are no transcripts associated with this gene.

Gene

LOC101929089

Gene Name

uncharacterized LOC101929089

There are no transcripts associated with this gene.

Gene

TMEM25

Gene Name

transmembrane protein 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144034.1	239	Missense Mutation	AGC,ATC	S92I	NP_001137506.1
NM_001144035.1	239	Missense Mutation	AGC,ATC	S92I	NP_001137507.1
NM_001144036.1	239	Intron			NP_001137508.1
NM_001144037.1	239	Missense Mutation	AGC,ATC	S92I	NP_001137509.1
NM_001144038.1	239	Missense Mutation	AGC,ATC	S92I	NP_001137510.1
NM_001318755.1	239	Missense Mutation	AGC,ATC	S92I	NP_001305684.1
NM_001318757.1	239	Missense Mutation	AGC,ATC	S92I	NP_001305686.1
NM_032780.3	239	Missense Mutation	AGC,ATC	S92I	NP_116169.2
XM_005271703.1	239	Missense Mutation	AGC,ATC	S92I	XP_005271760.1
XM_006718926.2	239	Missense Mutation	AGC,ATC	S92I	XP_006718989.1
XM_006718927.2	239	Missense Mutation	AGC,ATC	S92I	XP_006718990.1
XM_011543037.2	239	Missense Mutation	AGC,ATC	S92I	XP_011541339.1
XM_011543038.2	239	Missense Mutation	AGC,ATC	S92I	XP_011541340.1
XM_017018422.1	239	Missense Mutation	AGC,ATC	S92I	XP_016873911.1
XM_017018423.1	239	Missense Mutation	AGC,ATC	S92I	XP_016873912.1
XM_017018424.1	239	Missense Mutation	AGC,ATC	S60I	XP_016873913.1
XM_017018425.1	239	Missense Mutation	AGC,ATC	S60I	XP_016873914.1
XM_017018426.1	239	Missense Mutation	AGC,ATC	S92I	XP_016873915.1
XM_017018427.1	239	Missense Mutation	AGC,ATC	S60I	XP_016873916.1
XM_017018428.1	239	Missense Mutation	AGC,ATC	S60I	XP_016873917.1
XM_017018429.1	239	Missense Mutation	AGC,ATC	S60I	XP_016873918.1
XM_017018430.1	239	Missense Mutation	AGC,ATC	S92I	XP_016873919.1
XM_017018431.1	239	Missense Mutation	AGC,ATC	S92I	XP_016873920.1
XM_017018432.1	239	Missense Mutation	AGC,ATC	S60I	XP_016873921.1
XM_017018433.1	239	Missense Mutation	AGC,ATC	S60I	XP_016873922.1

Gene

TTC36

Gene Name

tetratricopeptide repeat domain 36

There are no transcripts associated with this gene.

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