Product Details

SNP ID

rs3766744

Assay Type

Functionally tested

NCBI dbSNP Submissions

40

Location

Chr.1:11983660 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

TCAAGGCTTTCCAGAGGCAGAGGAG[A/G]AACCCAGCTGCCCTGCATCACCCTG

Phenotype

MIM: 608507 MIM: 153454

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MFN2 PubMed Links

Gene Details

Gene

MFN2

Gene Name

mitofusin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127660.1		Intron			NP_001121132.1
NM_014874.3		Intron			NP_055689.1
XM_005263543.3		Intron			XP_005263600.1
XM_005263545.3		Intron			XP_005263602.1
XM_005263547.3		Intron			XP_005263604.1
XM_005263548.3		Intron			XP_005263605.1

Gene

PLOD1

Gene Name

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

There are no transcripts associated with this gene.

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