Product Details

SNP ID

rs200355197

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43336676 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAGCTTACTAGTAGCCCTGAAG[A/G]TATTCTAATGGTAAGACATGAAGGA

Phenotype

MIM: 611246

Polymorphism

A/G, 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	387	Missense Mutation	GAT,GGT	D82G	NP_001012987.1
NM_001159280.2	387	Missense Mutation	GAT,GGT	D82G	NP_001152752.1
NM_001324364.1	387	Missense Mutation	GAT,GGT	D82G	NP_001311293.1
NM_001324365.1	387	Missense Mutation	GAT,GGT	D82G	NP_001311294.1
NM_001324366.1	387	Missense Mutation	GAT,GGT	D82G	NP_001311295.1
NM_001324367.1	387	Missense Mutation	GAT,GGT	D82G	NP_001311296.1
NM_001324368.1	387	Missense Mutation	GAT,GGT	D82G	NP_001311297.1
XM_011521291.2	387	Missense Mutation	GAT,GGT	D82G	XP_011519593.1
XM_017021964.1	387	Missense Mutation	GAT,GGT	D82G	XP_016877453.1
XM_017021965.1	387	Missense Mutation	GAT,GGT	D82G	XP_016877454.1
XM_017021966.1	387	Missense Mutation	GAT,GGT	D82G	XP_016877455.1
XM_017021967.1	387	Missense Mutation	GAT,GGT	D47G	XP_016877456.1
XM_017021968.1	387	Missense Mutation	GAT,GGT	D82G	XP_016877457.1
XM_017021969.1	387	Missense Mutation	GAT,GGT	D82G	XP_016877458.1

Gene

LCMT2

Gene Name

leucine carboxyl methyltransferase 2

There are no transcripts associated with this gene.

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