Product Details

SNP ID
rs200311619
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43329505 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGAAGCAGGATTTACGCGAGGAA[A/G]TGCCTCTGAGGATGGAAACACTAGG
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 1118 Intron NP_001012987.1
NM_001159280.2 1118 Intron NP_001152752.1
NM_001324364.1 1118 Intron NP_001311293.1
NM_001324365.1 1118 Intron NP_001311294.1
NM_001324366.1 1118 Intron NP_001311295.1
NM_001324367.1 1118 Intron NP_001311296.1
NM_001324368.1 1118 Intron NP_001311297.1
XM_011521291.2 1118 Intron XP_011519593.1
XM_017021964.1 1118 Intron XP_016877453.1
XM_017021965.1 1118 Intron XP_016877454.1
XM_017021966.1 1118 Intron XP_016877455.1
XM_017021967.1 1118 Intron XP_016877456.1
XM_017021968.1 1118 Intron XP_016877457.1
XM_017021969.1 1118 Intron XP_016877458.1
Gene
LCMT2
Gene Name
leucine carboxyl methyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014793.4 1118 Missense Mutation CTT,TTT L329F NP_055608.2

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