Product Details

SNP ID

rs138231883

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:112485985 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGACAAACTGTGTCGCAAAGCT[G/T]CTTTAGTGAAGTAAGTGTTAAGACC

Phenotype

MIM: 608291

Polymorphism

G/T, Transversion 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	444	Missense Mutation	GCT,TCT	A76S	NP_714923.1
XM_005263599.3	444	Missense Mutation	GCT,TCT	A76S	XP_005263656.1
XM_011510665.2	444	Missense Mutation	GCT,TCT	A76S	XP_011508967.1

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