Product Details

SNP ID
rs145854901
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:235380051 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTTGGATTCTGGATATATTATAA[A/T]GAGTGACACTTTGACAGCGGATGTC
Phenotype
MIM: 604934
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TBCE PubMed Links

Gene Details

Gene
TBCE
Gene Name
tubulin folding cofactor E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001079515.2 178 Missense Mutation AAG,ATG K1M NP_001072983.1
NM_001287801.1 178 Missense Mutation AAG,ATG K1M NP_001274730.1
NM_001287802.1 178 UTR 5 NP_001274731.1
NM_003193.4 178 Missense Mutation AAG,ATG K1M NP_003184.1

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