Product Details

SNP ID

rs8103581

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48332696 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTTTAGAAATTCTTATTGGTTC[C/G]TTCCCTGCAGCGACAACCGGCTGCC

Phenotype

MIM: 615038 MIM: 602335

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC114 PubMed Links

Gene Details

Gene

CCDC114

Gene Name

coiled-coil domain containing 114

There are no transcripts associated with this gene.

Gene

EMP3

Gene Name

epithelial membrane protein 3

There are no transcripts associated with this gene.

Gene

TMEM143

Gene Name

transmembrane protein 143

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303538.1	2115	UTR 3			NP_001290467.1
NM_001303539.1	2115	UTR 3			NP_001290468.1
NM_001303540.1	2115	UTR 3			NP_001290469.1
NM_018273.3	2115	UTR 3			NP_060743.2

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