Product Details

SNP ID
rs121909730
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:87053380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCATTGTGTATGCCAAGCCAGAGT[A/G]CACGATGTCTTTCTCAGATGCACCC
Phenotype
MIM: 138130
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GLUD1 PubMed Links

Gene Details

Gene
GLUD1
Gene Name
glutamate dehydrogenase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318900.1 2150 Missense Mutation CAC,TAC H374Y NP_001305829.1
NM_001318901.1 2150 Missense Mutation CAC,TAC H340Y NP_001305830.1
NM_001318902.1 2150 Missense Mutation CAC,TAC H340Y NP_001305831.1
NM_001318904.1 2150 Missense Mutation CAC,TAC H340Y NP_001305833.1
NM_001318905.1 2150 Missense Mutation CAC,TAC H340Y NP_001305834.1
NM_001318906.1 2150 Missense Mutation CAC,TAC H340Y NP_001305835.1
NM_005271.4 2150 Missense Mutation CAC,TAC H507Y NP_005262.1

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