Product Details

SNP ID

rs116299199

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:43963366 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAATTTGTTGAAGTTGAGCCTGA[A/G]GCTAAACAGGAAATTCTTGAAAACA

Phenotype

MIM: 612058

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SAMM50 PubMed Links

Gene Details

Gene

SAMM50

Gene Name

SAMM50 sorting and assembly machinery component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015380.4	299	Silent Mutation	GAA,GAG	E34E	NP_056195.3

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