Product Details

SNP ID

rs199819641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:112482416 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTCTCCCGGCTGCTCCTCGCCAC[C/T]GGCCACTGGAAGAGGCTGCGGCGAG

Phenotype

MIM: 608291

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TTL PubMed Links

Gene Details

Gene

TTL

Gene Name

tubulin tyrosine ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153712.4	290	Silent Mutation	ACC,ACT	T24T	NP_714923.1
XM_005263599.3	290	Silent Mutation	ACC,ACT	T24T	XP_005263656.1
XM_011510665.2	290	Silent Mutation	ACC,ACT	T24T	XP_011508967.1

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