Product Details

SNP ID

rs183337207

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:230911525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAAGTAATAAACTAAGGATAAGA[C/T]TAAGTTGCAGACAGCATCAGCCTCC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TTC13 PubMed Links

Gene Details

Gene

TTC13

Gene Name

tetratricopeptide repeat domain 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122835.2	3303	Missense Mutation	ATC,GTC	I698V	NP_001116307.2
NM_024525.4	3303	Missense Mutation	ATC,GTC	I752V	NP_078801.3
XM_005273260.1	3303	Missense Mutation	ATC,GTC	I751V	XP_005273317.1
XM_005273261.2	3303	Missense Mutation	ATC,GTC	I721V	XP_005273318.1
XM_005273262.1	3303	Missense Mutation	ATC,GTC	I699V	XP_005273319.1
XM_005273264.2	3303	Missense Mutation	ATC,GTC	I676V	XP_005273321.1
XM_006711814.2	3303	Missense Mutation	ATC,GTC	I623V	XP_006711877.1
XM_006711815.2	3303	Missense Mutation	ATC,GTC	I394V	XP_006711878.1
XM_011544275.2	3303	Missense Mutation	ATC,GTC	I645V	XP_011542577.1
XM_011544276.2	3303	Missense Mutation	ATC,GTC	I455V	XP_011542578.1
XM_017002321.1	3303	Missense Mutation	ATC,GTC	I720V	XP_016857810.1
XM_017002322.1	3303	Missense Mutation	ATC,GTC	I675V	XP_016857811.1
XM_017002323.1	3303	Missense Mutation	ATC,GTC	I623V	XP_016857812.1
XM_017002324.1	3303	Missense Mutation	ATC,GTC	I622V	XP_016857813.1
XM_017002325.1	3303	Missense Mutation	ATC,GTC	I393V	XP_016857814.1
XM_017002326.1	3303	Missense Mutation	ATC,GTC	I393V	XP_016857815.1

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