Product Details

SNP ID

rs201697344

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43335814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTGATTGACAAGGGAAAGAAAA[C/G]AACTTTGGAAGAGTAAGTGTGGGGA

Phenotype

MIM: 611246

Polymorphism

C/G, Transversion 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	324	Missense Mutation	ACA,AGA	T61R	NP_001012987.1
NM_001159280.2	324	Missense Mutation	ACA,AGA	T61R	NP_001152752.1
NM_001324364.1	324	Missense Mutation	ACA,AGA	T61R	NP_001311293.1
NM_001324365.1	324	Missense Mutation	ACA,AGA	T61R	NP_001311294.1
NM_001324366.1	324	Missense Mutation	ACA,AGA	T61R	NP_001311295.1
NM_001324367.1	324	Missense Mutation	ACA,AGA	T61R	NP_001311296.1
NM_001324368.1	324	Missense Mutation	ACA,AGA	T61R	NP_001311297.1
XM_011521291.2	324	Missense Mutation	ACA,AGA	T61R	XP_011519593.1
XM_017021964.1	324	Missense Mutation	ACA,AGA	T61R	XP_016877453.1
XM_017021965.1	324	Missense Mutation	ACA,AGA	T61R	XP_016877454.1
XM_017021966.1	324	Missense Mutation	ACA,AGA	T61R	XP_016877455.1
XM_017021967.1	324	Missense Mutation	ACA,AGA	T26R	XP_016877456.1
XM_017021968.1	324	Missense Mutation	ACA,AGA	T61R	XP_016877457.1
XM_017021969.1	324	Missense Mutation	ACA,AGA	T61R	XP_016877458.1

Gene

LCMT2

Gene Name

leucine carboxyl methyltransferase 2

There are no transcripts associated with this gene.

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