Product Details

SNP ID

rs34804805

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:86199506 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGTGAAGATGGCTGCCTCTGCC[G/T]TTGCTGGTGCAGTGAGAGCAGCTTC

Phenotype

MIM: 600378 MIM: 611841

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

IMMT PubMed Links

Gene Details

Gene

IMMT

Gene Name

inner membrane mitochondrial protein

There are no transcripts associated with this gene.

Gene

MIR4779

Gene Name

microRNA 4779

There are no transcripts associated with this gene.

Gene

MRPL35

Gene Name

mitochondrial ribosomal protein L35

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016622.3	74	Missense Mutation	GTT,TTT	V6F	NP_057706.2
NM_145644.2	74	Missense Mutation	GTT,TTT	V6F	NP_663619.1
XM_005264361.2	74	Intron			XP_005264418.1

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