Product Details

SNP ID

rs202148876

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154941226 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGTTGATGTTGCAGGTGCGTTAT[A/G]GATACATAACCTGAGGAGCCGGGGG

Phenotype

MIM: 607005 MIM: 611835

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GEMIN5 PubMed Links

Gene Details

Gene

GEMIN5

Gene Name

gem nuclear organelle associated protein 5

There are no transcripts associated with this gene.

Gene

MRPL22

Gene Name

mitochondrial ribosomal protein L22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014990.2	76	UTR 5			NP_001014990.1
NM_014180.3	76	Nonsense Mutation	TAG,TGG	*13W	NP_054899.2

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