Product Details

SNP ID

rs201110280

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43335751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCTCATACCATGAAGAAATTAA[C/T]AGCCCAGAAGCCAGATCTTAAAATC

Phenotype

MIM: 611246

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADAL PubMed Links

Gene Details

Gene

ADAL

Gene Name

adenosine deaminase like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012969.3	261	Missense Mutation	ACA,ATA	T40I	NP_001012987.1
NM_001159280.2	261	Missense Mutation	ACA,ATA	T40I	NP_001152752.1
NM_001324364.1	261	Missense Mutation	ACA,ATA	T40I	NP_001311293.1
NM_001324365.1	261	Missense Mutation	ACA,ATA	T40I	NP_001311294.1
NM_001324366.1	261	Missense Mutation	ACA,ATA	T40I	NP_001311295.1
NM_001324367.1	261	Missense Mutation	ACA,ATA	T40I	NP_001311296.1
NM_001324368.1	261	Missense Mutation	ACA,ATA	T40I	NP_001311297.1
XM_011521291.2	261	Missense Mutation	ACA,ATA	T40I	XP_011519593.1
XM_017021964.1	261	Missense Mutation	ACA,ATA	T40I	XP_016877453.1
XM_017021965.1	261	Missense Mutation	ACA,ATA	T40I	XP_016877454.1
XM_017021966.1	261	Missense Mutation	ACA,ATA	T40I	XP_016877455.1
XM_017021967.1	261	Missense Mutation	ACA,ATA	T5I	XP_016877456.1
XM_017021968.1	261	Missense Mutation	ACA,ATA	T40I	XP_016877457.1
XM_017021969.1	261	Missense Mutation	ACA,ATA	T40I	XP_016877458.1

Gene

LCMT2

Gene Name

leucine carboxyl methyltransferase 2

There are no transcripts associated with this gene.

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