Product Details

SNP ID

rs73303861

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18016580 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGATTCACAAGGATGAGATCATGA[A/G]GAACCGCAAGCGCGTGAAGGAGATC

Phenotype

MIM: 608918

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATPAF2 PubMed Links

Gene Details

Gene

ATPAF2

Gene Name

ATP synthase mitochondrial F1 complex assembly factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145691.3	1861	Intron			NP_663729.1
XM_005256848.3	1861	Intron			XP_005256905.1
XM_011524065.1	1861	Intron			XP_011522367.1
XM_017025302.1	1861	Intron			XP_016880791.1
XM_017025303.1	1861	Intron			XP_016880792.1

Gene

DRC3

Gene Name

dynein regulatory complex subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130090.1	1861	Missense Mutation	AAG,AGG	K494R	NP_001123562.1
NM_001130091.1	1861	Intron			NP_001123563.1
NM_001130092.1	1861	Intron			NP_001123564.1
NM_031294.3	1861	Missense Mutation	AAG,AGG	K494R	NP_112584.3
XM_006721583.3	1861	Missense Mutation	AAG,AGG	K513R	XP_006721646.1
XM_011524018.2	1861	Missense Mutation	AAG,AGG	K533R	XP_011522320.1
XM_011524019.2	1861	Missense Mutation	AAG,AGG	K533R	XP_011522321.1
XM_011524020.2	1861	Missense Mutation	AAG,AGG	K533R	XP_011522322.1
XM_011524021.2	1861	Missense Mutation	AAG,AGG	K514R	XP_011522323.1
XM_011524022.2	1861	Intron			XP_011522324.1
XM_011524023.2	1861	Intron			XP_011522325.1
XM_011524025.2	1861	Missense Mutation	AAG,AGG	K276R	XP_011522327.1
XM_011524026.2	1861	Missense Mutation	AAG,AGG	K276R	XP_011522328.1

View Full Product Details