Product Details

SNP ID

rs186248794

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:120606162 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGGCCTTTTTATCCAACCCTAA[A/G]ATTACTTCACAAATGTAAGGTTTTT

Phenotype

MIM: 300587

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MCTS1 PubMed Links

Gene Details

Gene

MCTS1

Gene Name

MCTS1, re-initiation and release factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001137554.1	408	Missense Mutation	AAA,AGA	K84R	NP_001131026.1
NM_014060.2	408	Missense Mutation	AAA,AGA	K83R	NP_054779.1

View Full Product Details