Product Details

SNP ID

rs41275305

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:160010614 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGATACTCAGGAAGCCGAGTGTG[C/G]TGGCCCTCCAGTTCCTGATCCCAAA

Phenotype

MIM: 601963

Polymorphism

C/G, Transversion 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	206	Missense Mutation	GCT,GGT	A29G	NP_001269429.1
NM_003314.2	206	Missense Mutation	GCT,GGT	A29G	NP_003305.1

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