Product Details

SNP ID

rs191729623

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:27435884 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATAGTCTGGAGTATTTGATGAA[A/C]TATCTCCTCCTAAAAAAGGGAAACA

Phenotype

MIM: 600860

Polymorphism

A/C, 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	1516	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	1516	Intron			NP_001159733.1
NM_001166262.1	1516	Intron			NP_001159734.1
NM_001166263.1	1516	Missense Mutation	GTT,TTT	V210F	NP_001159735.1
NM_152912.4	1516	Intron			NP_690876.3
XM_006719771.3	1516	Missense Mutation	GTT,TTT	V210F	XP_006719834.1
XM_006719772.3	1516	Missense Mutation	GTT,TTT	V210F	XP_006719835.1
XM_011534957.2	1516	Missense Mutation	GTT,TTT	V210F	XP_011533259.1
XM_011534958.2	1516	Missense Mutation	GTT,TTT	V210F	XP_011533260.1
XM_011534959.2	1516	Missense Mutation	GTT,TTT	V210F	XP_011533261.1
XM_011534960.2	1516	Missense Mutation	GTT,TTT	V210F	XP_011533262.1
XM_011534961.2	1516	Missense Mutation	GTT,TTT	V210F	XP_011533263.1
XM_011534962.2	1516	Missense Mutation	GTT,TTT	V210F	XP_011533264.1
XM_011534963.2	1516	Missense Mutation	GTT,TTT	V210F	XP_011533265.1
XM_017020417.1	1516	Intron			XP_016875906.1

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