Product Details

SNP ID

rs142562007

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:65719362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCAGCATCAGTGTCCTCACTGCT[C/T]GACTGTTCTCTCTGCAGTCCCTTCC

Phenotype

MIM: 171885

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MTFR1 PubMed Links

Additional Information

For this assay, SNP(s) [rs28515659] 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

MTFR1

Gene Name

mitochondrial fission regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145838.1	1452	Intron			NP_001139310.1
NM_001145839.1	1452	Intron			NP_001139311.1
NM_014637.3	1452	Intron			NP_055452.3
XM_006716484.2	1452	Intron			XP_006716547.2
XM_011517626.1	1452	Intron			XP_011515928.1
XM_011517627.2	1452	Intron			XP_011515929.1
XM_011517628.2	1452	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	1452	Silent Mutation	TCA,TCG	S459S	NP_001229247.1
NM_002603.3	1452	Silent Mutation	TCA,TCG	S433S	NP_002594.1
XM_011517540.2	1452	Silent Mutation	TCA,TCG	S433S	XP_011515842.1
XM_017013538.1	1452	Silent Mutation	TCA,TCG	S425S	XP_016869027.1

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