Product Details

SNP ID

rs200513830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:23299539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAAACTTTGTCCGCGGCCTGCAC[A/G]GCGAGCCTGGGCTGGAGGAGCGGGC

Phenotype

MIM: 614624

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MALSU1 PubMed Links

Gene Details

Gene

MALSU1

Gene Name

mitochondrial assembly of ribosomal large subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138446.1	219	Missense Mutation	AGC,GGC	S63G	NP_612455.1
XM_017011731.1	219	Intron			XP_016867220.1

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