Product Details

SNP ID

rs145073416

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.13:27435721 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTTATCATTTCCATGGTCTTTG[G/T]TCAAAGTGTCTCTTTCCTGGGTCTC

Phenotype

MIM: 600860

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

GTF3A PubMed Links

Additional Information

For this assay, SNP(s) [rs7669] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1679	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	1679	Intron			NP_001159733.1
NM_001166262.1	1679	Intron			NP_001159734.1
NM_001166263.1	1679	Missense Mutation	AAC,ACC	N264T	NP_001159735.1
NM_152912.4	1679	Intron			NP_690876.3
XM_006719771.3	1679	Missense Mutation	AAC,ACC	N264T	XP_006719834.1
XM_006719772.3	1679	Missense Mutation	AAC,ACC	N264T	XP_006719835.1
XM_011534957.2	1679	Missense Mutation	AAC,ACC	N264T	XP_011533259.1
XM_011534958.2	1679	Missense Mutation	AAC,ACC	N264T	XP_011533260.1
XM_011534959.2	1679	Missense Mutation	AAC,ACC	N264T	XP_011533261.1
XM_011534960.2	1679	Missense Mutation	AAC,ACC	N264T	XP_011533262.1
XM_011534961.2	1679	Missense Mutation	AAC,ACC	N264T	XP_011533263.1
XM_011534962.2	1679	Missense Mutation	AAC,ACC	N264T	XP_011533264.1
XM_011534963.2	1679	Missense Mutation	AAC,ACC	N264T	XP_011533265.1
XM_017020417.1	1679	Intron			XP_016875906.1

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