Product Details

SNP ID

hCV26381064

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:77693297 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTTGAAGATCCAAATATGCGGCT[C/T]CCAACCTGCGCTGGCAATCTGGGAT

Phenotype

MIM: 610058

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TBCA PubMed Links

Gene Details

Gene

TBCA

Gene Name

tubulin folding cofactor A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297738.1	319	Missense Mutation	GAA,GGA	E72G	NP_001284667.1
NM_001297740.1	319	Intron			NP_001284669.1
NM_004607.2	319	Missense Mutation	GAA,GGA	E72G	NP_004598.1

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