Product Details

SNP ID: rs139275410
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:105211242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACGGGCCCGCTCTCCACCAGCACCG[C/T]CTGGGGCCTGGCAGGCTCAGCTCCG
Phenotype: MIM: 604902
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: BRF1 PubMed Links

Gene Details

Gene: BRF1
Gene Name: BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242786.1	2529	Missense Mutation	ACG,GCG	T533A	NP_001229715.1
NM_001242787.1	2529	Missense Mutation	ACG,GCG	T511A	NP_001229716.1
NM_001242788.1	2529	Missense Mutation	ACG,GCG	T599A	NP_001229717.1
NM_001242789.1	2529	Missense Mutation	ACG,GCG	T388A	NP_001229718.1
NM_001242790.1	2529	Intron			NP_001229719.1
NM_001519.3	2529	Missense Mutation	ACG,GCG	T626A	NP_001510.2
NM_145685.2	2529	Missense Mutation	ACG,GCG	T422A	NP_663718.1
XM_005267561.3	2529	Missense Mutation	ACG,GCG	T625A	XP_005267618.1
XM_005267563.3	2529	Missense Mutation	ACG,GCG	T422A	XP_005267620.1
XM_006720123.2	2529	Missense Mutation	ACG,GCG	T405A	XP_006720186.1
XM_011536672.2	2529	Intron			XP_011534974.1
XM_011536673.1	2529	Missense Mutation	ACG,GCG	T576A	XP_011534975.1
XM_011536674.1	2529	Missense Mutation	ACG,GCG	T455A	XP_011534976.1