Product Details

SNP ID

rs116519747

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:99185728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCAGACCACAAACTTTATTGATA[A/G]CTGGATGCACTTGGATAAGTTATTG

Phenotype

MIM: 611838

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MITD1 PubMed Links

Gene Details

Gene

MITD1

Gene Name

microtubule interacting and trafficking domain containing 1

There are no transcripts associated with this gene.

Gene

MRPL30

Gene Name

mitochondrial ribosomal protein L30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145212.3		Intron			NP_660213.1

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