Product Details

SNP ID

rs2295283

Assay Type

Validated

NCBI dbSNP Submissions

98

Location

Chr.1:12022869 on Build GRCh38

Set Membership

HapMap JSNP Validated

Context Sequence [VIC/FAM]

CTTCTCTGAGGAGTCTGCAGTTCCT[A/G]AGAGGAGCTGGCGCCTCAGGCCATA

Phenotype

MIM: 608507 MIM: 608772

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MFN2 PubMed Links

Gene Details

Gene

MFN2

Gene Name

mitofusin 2

There are no transcripts associated with this gene.

Gene

MIIP

Gene Name

migration and invasion inhibitory protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021933.3	616	Missense Mutation	AAG,GAG	K167E	NP_068752.2
XM_005263487.3	616	Missense Mutation	AAG,GAG	K167E	XP_005263544.1
XM_011541895.1	616	Missense Mutation	AAG,GAG	K167E	XP_011540197.1
XM_011541896.1	616	Missense Mutation	AAG,GAG	K167E	XP_011540198.1

Gene

MIR6729

Gene Name

microRNA 6729

There are no transcripts associated with this gene.

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