Product Details

SNP ID
rs142110773
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:50463317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCACATGGGCAGATTCCACCGTGC[A/G]AGAACAGATGGCAAAGCGCAGGACA
Phenotype
MIM: 107930
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DDC PubMed Links

Gene Details

Gene
DDC
Gene Name
dopa decarboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000790.3 1329 Missense Mutation CGC,TGC R453C NP_000781.1
NM_001082971.1 1329 Missense Mutation CGC,TGC R453C NP_001076440.1
NM_001242886.1 1329 Missense Mutation CGC,TGC R415C NP_001229815.1
NM_001242887.1 1329 Missense Mutation CGC,TGC R405C NP_001229816.1
NM_001242888.1 1329 Missense Mutation CGC,TGC R375C NP_001229817.1
NM_001242889.1 1329 Missense Mutation CGC,TGC R360C NP_001229818.1
NM_001242890.1 1329 Intron NP_001229819.1
XM_005271745.4 1329 Missense Mutation CGC,TGC R415C XP_005271802.1
XM_011515161.2 1329 Missense Mutation CGC,TGC R434C XP_011513463.2

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