Product Details

SNP ID

rs148121646

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70772525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTGGAATCTTACCTGGTTTTTCG[C/T]TTTTTGTAAAAGGTGATATCTTCGT

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	1494	Missense Mutation	AAC,AGC	N321S	NP_001305170.1
NM_001318242.1	1494	Missense Mutation	AAC,AGC	N320S	NP_001305171.1
NM_001318243.1	1494	Missense Mutation	AAC,AGC	N319S	NP_001305172.1
NM_152710.3	1494	Missense Mutation	AAC,AGC	N320S	NP_689923.3
XM_017015845.1	1494	Missense Mutation	ACG,GCG	T384A	XP_016871334.1
XM_017015846.1	1494	Missense Mutation	ACG,GCG	T384A	XP_016871335.1
XM_017015847.1	1494	Missense Mutation	ACG,GCG	T384A	XP_016871336.1
XM_017015848.1	1494	Silent Mutation	AAA,AAG	K368K	XP_016871337.1
XM_017015849.1	1494	Missense Mutation	ACG,GCG	T384A	XP_016871338.1
XM_017015850.1	1494	Intron			XP_016871339.1
XM_017015851.1	1494	Intron			XP_016871340.1
XM_017015852.1	1494	Intron			XP_016871341.1
XM_017015853.1	1494	Missense Mutation	AAC,AGC	N352S	XP_016871342.1
XM_017015854.1	1494	Silent Mutation	AAA,AAG	K368K	XP_016871343.1
XM_017015855.1	1494	Silent Mutation	AAA,AAG	K368K	XP_016871344.1
XM_017015856.1	1494	Missense Mutation	AAC,AGC	N352S	XP_016871345.1
XM_017015857.1	1494	Missense Mutation	AAC,AGC	N352S	XP_016871346.1
XM_017015858.1	1494	Intron			XP_016871347.1
XM_017015859.1	1494	Intron			XP_016871348.1
XM_017015860.1	1494	Silent Mutation	AAA,AAG	K276K	XP_016871349.1
XM_017015861.1	1494	Intron			XP_016871350.1
XM_017015862.1	1494	Intron			XP_016871351.1

View Full Product Details