Product Details

SNP ID

rs78112722

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:27763287 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCATTTATCGTGGTGGTTTGTTT[A/T]TCTAAATTCATAGCTTTTAGAATCC

Phenotype

MIM: 611995

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

MANSC4 PubMed Links

Gene Details

Gene

MANSC4

Gene Name

MANSC domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146221.1	474	Missense Mutation	GAA,GAT	E158D	NP_001139693.1
XM_006719024.3	474	Missense Mutation	GAA,GAT	E113D	XP_006719087.1
XM_011520542.2	474	Missense Mutation	GAA,GAT	E131D	XP_011518844.1

Gene

MRPS35

Gene Name

mitochondrial ribosomal protein S35

There are no transcripts associated with this gene.

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