Product Details

SNP ID

rs150118163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:23299542 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACTTTGTCCGCGGCCTGCACAGC[A/G]AGCCTGGGCTGGAGGAGCGGGCGGA

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	222	Missense Mutation	AAG,GAG	K64E	NP_612455.1
XM_017011731.1	222	Intron			XP_016867220.1

View Full Product Details