Product Details

SNP ID

rs114486517

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:367691 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTGTGGTCACTGGCCACTGGCT[C/G]TCTTCTGCACCACCGCCGGCTCTGA

Phenotype

MIM: 604853

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MRPL28 PubMed Links

Gene Details

Gene

MRPL28

Gene Name

mitochondrial ribosomal protein L28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006428.4	788	Missense Mutation	ACA,AGA	T252R	NP_006419.2
XM_005255041.1	788	Missense Mutation	ACA,AGA	T252R	XP_005255098.1
XM_011522351.2	788	Missense Mutation	ACA,AGA	T252R	XP_011520653.1

Gene

TMEM8A

Gene Name

transmembrane protein 8A

There are no transcripts associated with this gene.

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