Product Details

SNP ID

rs74523522

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:65718469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTTTCTCGCATGTGCAGGTCAA[C/G]TGTACAGTAGTGAAAACAACATGCA

Phenotype

MIM: 171885

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MTFR1 PubMed Links

Gene Details

Gene

MTFR1

Gene Name

mitochondrial fission regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145838.1	2345	Intron			NP_001139310.1
NM_001145839.1	2345	Intron			NP_001139311.1
NM_014637.3	2345	Intron			NP_055452.3
XM_006716484.2	2345	Intron			XP_006716547.2
XM_011517626.1	2345	Intron			XP_011515928.1
XM_011517627.2	2345	Intron			XP_011515929.1
XM_011517628.2	2345	Intron			XP_011515930.1

Gene

PDE7A

Gene Name

phosphodiesterase 7A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242318.2	2345	UTR 3			NP_001229247.1
NM_002603.3	2345	UTR 3			NP_002594.1
XM_011517540.2	2345	UTR 3			XP_011515842.1
XM_017013538.1	2345	UTR 3			XP_016869027.1

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