Product Details

SNP ID

rs1218825

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:27435783 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TATATGCCTTCTCCTCATTTTTGCT[C/G]AAAGCACGAAGAACACACATTAAAG

Phenotype

MIM: 600860

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GTF3A PubMed Links

Gene Details

Gene

GTF3A

Gene Name

general transcription factor IIIA

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002097.2	1617	Intron			NP_002088.2

Gene

MTIF3

Gene Name

mitochondrial translational initiation factor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166261.1	1617	Intron			NP_001159733.1
NM_001166262.1	1617	Intron			NP_001159734.1
NM_001166263.1	1617	Missense Mutation	TTC,TTG	F243L	NP_001159735.1
NM_152912.4	1617	Intron			NP_690876.3
XM_006719771.3	1617	Missense Mutation	TTC,TTG	F243L	XP_006719834.1
XM_006719772.3	1617	Missense Mutation	TTC,TTG	F243L	XP_006719835.1
XM_011534957.2	1617	Missense Mutation	TTC,TTG	F243L	XP_011533259.1
XM_011534958.2	1617	Missense Mutation	TTC,TTG	F243L	XP_011533260.1
XM_011534959.2	1617	Missense Mutation	TTC,TTG	F243L	XP_011533261.1
XM_011534960.2	1617	Missense Mutation	TTC,TTG	F243L	XP_011533262.1
XM_011534961.2	1617	Missense Mutation	TTC,TTG	F243L	XP_011533263.1
XM_011534962.2	1617	Missense Mutation	TTC,TTG	F243L	XP_011533264.1
XM_011534963.2	1617	Missense Mutation	TTC,TTG	F243L	XP_011533265.1
XM_017020417.1	1617	Intron			XP_016875906.1

View Full Product Details