Product Details

SNP ID

rs144699723

Assay Type

Functionally tested

NCBI dbSNP Submissions

19

Location

Chr.1:51290556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTCTTCAGCCTTAGTGATAATCT[C/G]AAGTATCCCATCCGTGAGTTTCGGC

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TTC39A PubMed Links

Gene Details

Gene

TTC39A

Gene Name

tetratricopeptide repeat domain 39A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080494.3	1543	Missense Mutation	CAG,GAG	Q447E	NP_001073963.1
NM_001144832.2	1543	Missense Mutation	CAG,GAG	Q450E	NP_001138304.1
NM_001297662.1	1543	Intron			NP_001284591.1
NM_001297663.1	1543	Missense Mutation	CAG,GAG	Q446E	NP_001284592.1
NM_001297664.1	1543	Missense Mutation	CAG,GAG	Q419E	NP_001284593.1
NM_001297665.1	1543	Missense Mutation	CAG,GAG	Q482E	NP_001284594.1
NM_001297666.1	1543	Missense Mutation	CAG,GAG	Q90E	NP_001284595.1
NM_001297667.1	1543	Missense Mutation	CAG,GAG	Q23E	NP_001284596.1
XM_005270644.2	1543	Missense Mutation	CAG,GAG	Q443E	XP_005270701.1
XM_006710471.2	1543	Missense Mutation	CAG,GAG	Q478E	XP_006710534.1
XM_011541048.2	1543	Missense Mutation	CAG,GAG	Q485E	XP_011539350.1
XM_011541049.2	1543	Missense Mutation	CAG,GAG	Q483E	XP_011539351.1
XM_011541050.2	1543	Missense Mutation	CAG,GAG	Q481E	XP_011539352.1
XM_011541051.2	1543	Missense Mutation	CAG,GAG	Q454E	XP_011539353.1
XM_011541052.2	1543	Missense Mutation	CAG,GAG	Q454E	XP_011539354.1
XM_011541053.2	1543	Missense Mutation	CAG,GAG	Q454E	XP_011539355.1
XM_011541054.2	1543	Missense Mutation	CAG,GAG	Q419E	XP_011539356.1
XM_017000715.1	1543	Missense Mutation	CAG,GAG	Q419E	XP_016856204.1

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