Product Details

SNP ID

rs144406191

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:77691473 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAACGTGCTTCTTTATATTCCTCA[C/G]CTTCTTCCAAGTCTTTTTCATTTTC

Phenotype

MIM: 610058

Polymorphism

C/G, Transversion 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	376	UTR 3			NP_001284667.1
NM_001297740.1	376	Missense Mutation	GCT,GGT	A62G	NP_001284669.1
NM_004607.2	376	Missense Mutation	GCT,GGT	A91G	NP_004598.1

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