Product Details

SNP ID

rs75184401

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118532992 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCCTCCTGGTTGTCCTGTTTG[C/T]CCTGGTGCGTGCCAACCCGCCGGCC

Phenotype

MIM: 159555 MIM: 613934

Polymorphism

C/T, Transition 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	422	Missense Mutation	GCC,GTC	A153V	NP_001137506.1
NM_001144035.1	422	Missense Mutation	GCC,GTC	A153V	NP_001137507.1
NM_001144036.1	422	Missense Mutation	GCC,GTC	A49V	NP_001137508.1
NM_001144037.1	422	Missense Mutation	GCC,GTC	A153V	NP_001137509.1
NM_001144038.1	422	Missense Mutation	GCC,GTC	A153V	NP_001137510.1
NM_001318755.1	422	Missense Mutation	GCC,GTC	A153V	NP_001305684.1
NM_001318757.1	422	Intron			NP_001305686.1
NM_032780.3	422	Missense Mutation	GCC,GTC	A153V	NP_116169.2
XM_005271703.1	422	Missense Mutation	GCC,GTC	A153V	XP_005271760.1
XM_006718926.2	422	Missense Mutation	GCC,GTC	A153V	XP_006718989.1
XM_006718927.2	422	Missense Mutation	GCC,GTC	A153V	XP_006718990.1
XM_011543037.2	422	Missense Mutation	GCC,GTC	A153V	XP_011541339.1
XM_011543038.2	422	Missense Mutation	GCC,GTC	A153V	XP_011541340.1
XM_017018422.1	422	Missense Mutation	GCC,GTC	A153V	XP_016873911.1
XM_017018423.1	422	Missense Mutation	GCC,GTC	A153V	XP_016873912.1
XM_017018424.1	422	Missense Mutation	GCC,GTC	A121V	XP_016873913.1
XM_017018425.1	422	Missense Mutation	GCC,GTC	A121V	XP_016873914.1
XM_017018426.1	422	Missense Mutation	GCC,GTC	A153V	XP_016873915.1
XM_017018427.1	422	Missense Mutation	GCC,GTC	A121V	XP_016873916.1
XM_017018428.1	422	Missense Mutation	GCC,GTC	A121V	XP_016873917.1
XM_017018429.1	422	Missense Mutation	GCC,GTC	A121V	XP_016873918.1
XM_017018430.1	422	Missense Mutation	GCC,GTC	A153V	XP_016873919.1
XM_017018431.1	422	Missense Mutation	GCC,GTC	A153V	XP_016873920.1
XM_017018432.1	422	Missense Mutation	GCC,GTC	A121V	XP_016873921.1
XM_017018433.1	422	Missense Mutation	GCC,GTC	A121V	XP_016873922.1

Gene

TTC36

Gene Name

tetratricopeptide repeat domain 36

There are no transcripts associated with this gene.

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