Product Details

SNP ID

rs202040509

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70772523 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACTTGGAATCTTACCTGGTTTTT[C/T]GCTTTTTGTAAAAGGTGATATCTTC

Phenotype

MIM: 612640

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TBATA PubMed Links

Gene Details

Gene

TBATA

Gene Name

thymus, brain and testes associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318241.1	1496	Missense Mutation	AAA,GAA	K322E	NP_001305170.1
NM_001318242.1	1496	Missense Mutation	AAA,GAA	K321E	NP_001305171.1
NM_001318243.1	1496	Missense Mutation	AAA,GAA	K320E	NP_001305172.1
NM_152710.3	1496	Missense Mutation	AAA,GAA	K321E	NP_689923.3
XM_017015845.1	1496	Silent Mutation	GCA,GCG	A384A	XP_016871334.1
XM_017015846.1	1496	Silent Mutation	GCA,GCG	A384A	XP_016871335.1
XM_017015847.1	1496	Silent Mutation	GCA,GCG	A384A	XP_016871336.1
XM_017015848.1	1496	Missense Mutation	CAA,CGA	Q369R	XP_016871337.1
XM_017015849.1	1496	Silent Mutation	GCA,GCG	A384A	XP_016871338.1
XM_017015850.1	1496	Intron			XP_016871339.1
XM_017015851.1	1496	Intron			XP_016871340.1
XM_017015852.1	1496	Intron			XP_016871341.1
XM_017015853.1	1496	Missense Mutation	AAA,GAA	K353E	XP_016871342.1
XM_017015854.1	1496	Missense Mutation	CAA,CGA	Q369R	XP_016871343.1
XM_017015855.1	1496	Missense Mutation	CAA,CGA	Q369R	XP_016871344.1
XM_017015856.1	1496	Missense Mutation	AAA,GAA	K353E	XP_016871345.1
XM_017015857.1	1496	Missense Mutation	AAA,GAA	K353E	XP_016871346.1
XM_017015858.1	1496	Intron			XP_016871347.1
XM_017015859.1	1496	Intron			XP_016871348.1
XM_017015860.1	1496	Missense Mutation	CAA,CGA	Q277R	XP_016871349.1
XM_017015861.1	1496	Intron			XP_016871350.1
XM_017015862.1	1496	Intron			XP_016871351.1

View Full Product Details