Product Details

SNP ID

rs200052414

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70774322 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGCTGGGGAAGGAGCTGAGCCA[C/G]TGCTGTCTGCAGGAGTCCCAGAGCG

Phenotype

MIM: 612640

Polymorphism

C/G, Transversion 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	1294	Missense Mutation	CTG,GTG	L271V	NP_001305170.1
NM_001318242.1	1294	Missense Mutation	CTG,GTG	L270V	NP_001305171.1
NM_001318243.1	1294	Missense Mutation	CTG,GTG	L269V	NP_001305172.1
NM_152710.3	1294	Missense Mutation	CTG,GTG	L270V	NP_689923.3
XM_017015845.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871334.1
XM_017015846.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871335.1
XM_017015847.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871336.1
XM_017015848.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871337.1
XM_017015849.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871338.1
XM_017015850.1	1294	Intron			XP_016871339.1
XM_017015851.1	1294	Intron			XP_016871340.1
XM_017015852.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871341.1
XM_017015853.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871342.1
XM_017015854.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871343.1
XM_017015855.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871344.1
XM_017015856.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871345.1
XM_017015857.1	1294	Missense Mutation	CTG,GTG	L302V	XP_016871346.1
XM_017015858.1	1294	Missense Mutation	ACT,AGT	T322S	XP_016871347.1
XM_017015859.1	1294	Missense Mutation	ACT,AGT	T322S	XP_016871348.1
XM_017015860.1	1294	Intron			XP_016871349.1
XM_017015861.1	1294	Missense Mutation	CAC,CAG	H274Q	XP_016871350.1
XM_017015862.1	1294	Intron			XP_016871351.1

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