Product Details

SNP ID

rs2483099

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:41312403 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCGGGTGGGCAGTTTTCTGTGGG[C/T]TGTGTGCCAGCGTCCCTGGTAGCTT

Phenotype

MIM: 604601

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MTRF1 PubMed Links

Gene Details

Gene

MTRF1

Gene Name

mitochondrial translational release factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004294.2		Intron			NP_004285.2
XM_005266599.2		Intron			XP_005266656.1
XM_006719897.2		Intron			XP_006719960.1
XM_006719898.2		Intron			XP_006719961.1
XM_006719900.2		Intron			XP_006719963.1
XM_011535315.2		Intron			XP_011533617.1
XM_011535317.2		Intron			XP_011533619.1
XM_011535318.2		Intron			XP_011533620.1
XM_011535320.2		Intron			XP_011533622.1
XM_011535321.2		Intron			XP_011533623.1
XM_011535323.2		Intron			XP_011533625.1
XM_011535325.2		Intron			XP_011533627.1
XM_011535326.2		Intron			XP_011533628.1
XM_011535327.2		Intron			XP_011533629.1
XM_017020856.1		Intron			XP_016876345.1
XM_017020857.1		Intron			XP_016876346.1
XM_017020858.1		Intron			XP_016876347.1
XM_017020859.1		Intron			XP_016876348.1
XM_017020860.1		Intron			XP_016876349.1
XM_017020861.1		Intron			XP_016876350.1
XM_017020862.1		Intron			XP_016876351.1
XM_017020863.1		Intron			XP_016876352.1
XM_017020864.1		Intron			XP_016876353.1
XM_017020865.1		Intron			XP_016876354.1
XM_017020866.1		Intron			XP_016876355.1
XM_017020867.1		Intron			XP_016876356.1
XM_017020868.1		Intron			XP_016876357.1
XM_017020869.1		Intron			XP_016876358.1
XM_017020870.1		Intron			XP_016876359.1
XM_017020871.1		Intron			XP_016876360.1
XM_017020872.1		Intron			XP_016876361.1
XM_017020873.1		Intron			XP_016876362.1
XM_017020874.1		Intron			XP_016876363.1
XM_017020875.1		Intron			XP_016876364.1
XM_017020876.1		Intron			XP_016876365.1
XM_017020877.1		Intron			XP_016876366.1
XM_017020878.1		Intron			XP_016876367.1
XM_017020879.1		Intron			XP_016876368.1

Gene

NAA16

Gene Name

N(alpha)-acetyltransferase 16, NatA auxiliary subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001110798.1		Intron			NP_001104268.1
NM_018527.3		Intron			NP_060997.2
NM_024561.4		Intron			NP_078837.3
XM_005266523.2		Intron			XP_005266580.1
XM_006719866.2		Intron			XP_006719929.1
XM_011535227.2		Intron			XP_011533529.1
XM_011535228.1		Intron			XP_011533530.1
XM_017020744.1		Intron			XP_016876233.1
XM_017020745.1		Intron			XP_016876234.1
XM_017020746.1		Intron			XP_016876235.1

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