Product Details

SNP ID

rs143193655

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:21628437 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGGTCAGAGTAGGGAGGGTTCC[A/T]GGAAGGGTTCCAGAGTGGGCTCACA

Phenotype

MIM: 603721

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC116 PubMed Links

Gene Details

Gene

CCDC116

Gene Name

coiled-coil domain containing 116

There are no transcripts associated with this gene.

Gene

UBE2L3

Gene Name

ubiquitin conjugating enzyme E2 L3

There are no transcripts associated with this gene.

Gene

YDJC

Gene Name

YdjC homolog (bacterial)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017964.1	990	Missense Mutation	CAG,CTG	Q318L	NP_001017964.1
XM_011529906.2	990	UTR 3			XP_011528208.1

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