Product Details

SNP ID

rs199527751

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:14146042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTTCTGCTTTTCTTCATCTTCTC[C/G]GTTTTGAGGCCAGGAGGCAGCCAGT

Phenotype

MIM: 612048 MIM: 613208

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TMEM43 PubMed Links

Gene Details

Gene

TMEM43

Gene Name

transmembrane protein 43

There are no transcripts associated with this gene.

Gene

XPC

Gene Name

XPC complex subunit, DNA damage recognition and repair factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004628.4	2826	Missense Mutation	CGA,GGA	R908G	NP_004619.3
XM_011534093.2	2826	Intron			XP_011532395.1

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