Product Details

SNP ID

rs138509677

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:51288947 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCAAGTAGTGGTCATATTTAATC[C/T]TCTTTTCACTGCAGAACAGAGGACA

Phenotype

Polymorphism

C/T, Transition 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	1709	Missense Mutation	AAG,AGG	K502R	NP_001073963.1
NM_001144832.2	1709	Missense Mutation	AAG,AGG	K505R	NP_001138304.1
NM_001297662.1	1709	Intron			NP_001284591.1
NM_001297663.1	1709	Missense Mutation	AAG,AGG	K501R	NP_001284592.1
NM_001297664.1	1709	Missense Mutation	AAG,AGG	K474R	NP_001284593.1
NM_001297665.1	1709	Missense Mutation	AAG,AGG	K537R	NP_001284594.1
NM_001297666.1	1709	Missense Mutation	AAG,AGG	K145R	NP_001284595.1
NM_001297667.1	1709	Missense Mutation	AAG,AGG	K78R	NP_001284596.1
XM_005270644.2	1709	Missense Mutation	AAG,AGG	K498R	XP_005270701.1
XM_006710471.2	1709	Missense Mutation	AAG,AGG	K533R	XP_006710534.1
XM_011541048.2	1709	Missense Mutation	AAG,AGG	K540R	XP_011539350.1
XM_011541049.2	1709	Missense Mutation	AAG,AGG	K538R	XP_011539351.1
XM_011541050.2	1709	Missense Mutation	AAG,AGG	K536R	XP_011539352.1
XM_011541051.2	1709	Missense Mutation	AAG,AGG	K509R	XP_011539353.1
XM_011541052.2	1709	Missense Mutation	AAG,AGG	K509R	XP_011539354.1
XM_011541053.2	1709	Missense Mutation	AAG,AGG	K509R	XP_011539355.1
XM_011541054.2	1709	Missense Mutation	AAG,AGG	K474R	XP_011539356.1
XM_017000715.1	1709	Missense Mutation	AAG,AGG	K474R	XP_016856204.1

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