Product Details

SNP ID

rs11588712

Assay Type

Functionally tested

NCBI dbSNP Submissions

56

Location

Chr.1:12022404 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCAGGACCCCAGGAGGCACAGACC[C/T]CGAGGTCCATCCTGGCTCAACAGAG

Phenotype

MIM: 608507 MIM: 608772

Polymorphism

C/T, 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	541	Missense Mutation	CCG,TCG	P142S	NP_068752.2
XM_005263487.3	541	Missense Mutation	CCG,TCG	P142S	XP_005263544.1
XM_011541895.1	541	Missense Mutation	CCG,TCG	P142S	XP_011540197.1
XM_011541896.1	541	Missense Mutation	CCG,TCG	P142S	XP_011540198.1

Gene

MIR6729

Gene Name

microRNA 6729

There are no transcripts associated with this gene.

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