Product Details

SNP ID

rs201841703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:27763090 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATAGTCTTATTATCTGGATTGCTG[A/G]TGAAATCAGTACTTGGTGACACCTT

Phenotype

MIM: 611995

Polymorphism

A/G, Transition 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	671	Missense Mutation	ACC,ATC	T224I	NP_001139693.1
XM_006719024.3	671	Missense Mutation	ACC,ATC	T179I	XP_006719087.1
XM_011520542.2	671	Missense Mutation	ACC,ATC	T197I	XP_011518844.1

Gene

MRPS35

Gene Name

mitochondrial ribosomal protein S35

There are no transcripts associated with this gene.

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