Product Details

SNP ID

rs148446106

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6682157 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGAGCTGTGTGGGAGCTGTGGTT[C/G]CTTGCTTCCTGGCTTTGCCTGAGGT

Phenotype

MIM: 611830

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MRPL17 PubMed Links

Gene Details

Gene

MRPL17

Gene Name

mitochondrial ribosomal protein L17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022061.3	594	Missense Mutation	AGC,AGG	S163R	NP_071344.1

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