Product Details

SNP ID

rs141620829

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:23299535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCCCAAACTTTGTCCGCGGCCT[A/G]CACAGCGAGCCTGGGCTGGAGGAGC

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	215	Silent Mutation	CTA,CTG	L61L	NP_612455.1
XM_017011731.1	215	Intron			XP_016867220.1

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