Product Details

SNP ID

rs201690059

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:27435826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTAAAGCTTTTCCTCCTTGAACA[A/G]CTTGTGGCCTAGATGAGAATGTAGC

Phenotype

MIM: 600860

Polymorphism

A/G, Transition 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	1574	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	1574	Intron			NP_001159733.1
NM_001166262.1	1574	Intron			NP_001159734.1
NM_001166263.1	1574	Missense Mutation	GCT,GTT	A229V	NP_001159735.1
NM_152912.4	1574	Intron			NP_690876.3
XM_006719771.3	1574	Missense Mutation	GCT,GTT	A229V	XP_006719834.1
XM_006719772.3	1574	Missense Mutation	GCT,GTT	A229V	XP_006719835.1
XM_011534957.2	1574	Missense Mutation	GCT,GTT	A229V	XP_011533259.1
XM_011534958.2	1574	Missense Mutation	GCT,GTT	A229V	XP_011533260.1
XM_011534959.2	1574	Missense Mutation	GCT,GTT	A229V	XP_011533261.1
XM_011534960.2	1574	Missense Mutation	GCT,GTT	A229V	XP_011533262.1
XM_011534961.2	1574	Missense Mutation	GCT,GTT	A229V	XP_011533263.1
XM_011534962.2	1574	Missense Mutation	GCT,GTT	A229V	XP_011533264.1
XM_011534963.2	1574	Missense Mutation	GCT,GTT	A229V	XP_011533265.1
XM_017020417.1	1574	Intron			XP_016875906.1

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