Product Details

SNP ID
rs202134951
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15115398 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCCCGTGAGAGCAGCAAGCCCC[A/G]GGCCCCCAGACCCATGGCTGCCTTG
Phenotype
MIM: 605770
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ILVBL PubMed Links

Gene Details

Gene
ILVBL
Gene Name
ilvB acetolactate synthase like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006844.4 1907 Missense Mutation CGG,TGG R585W NP_006835.2
XM_005259717.4 1907 Missense Mutation CGG,TGG R585W XP_005259774.1
XM_011527651.2 1907 Missense Mutation CGG,TGG R478W XP_011525953.1
Gene
SYDE1
Gene Name
synapse defective Rho GTPase homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300910.1 1907 Intron NP_001287839.1
NM_033025.5 1907 Intron NP_149014.3

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