Product Details

SNP ID
rs114811339
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:99181839 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTAGGAGTTCAGAGAAGAGACAC[G/T]CTTCCAGCTTTCAGAGATCTCTGGT
Phenotype
MIM: 611838
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MITD1 PubMed Links

Gene Details

Gene
MITD1
Gene Name
microtubule interacting and trafficking domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320417.1 Intron NP_001307346.1
NM_001320418.1 Intron NP_001307347.1
NM_001320419.1 Intron NP_001307348.1
NM_138798.2 Intron NP_620153.1
XM_011510581.2 Intron XP_011508883.1
XM_011510582.2 Intron XP_011508884.1
XM_011510583.1 Intron XP_011508885.1
XM_017003314.1 Intron XP_016858803.1
XM_017003315.1 Intron XP_016858804.1
Gene
MRPL30
Gene Name
mitochondrial ribosomal protein L30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145212.3 Intron NP_660213.1

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