Product Details

SNP ID

rs41275307

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160010755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCATTTGAGGAGGAGCCAGGAG[C/T]GGACAAGGTTGAGAACAAATCTAAT

Phenotype

MIM: 601963

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TTC1 PubMed Links

Gene Details

Gene

TTC1

Gene Name

tetratricopeptide repeat domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282500.1	347	Missense Mutation	GCG,GTG	A76V	NP_001269429.1
NM_003314.2	347	Missense Mutation	GCG,GTG	A76V	NP_003305.1

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