Product Details

SNP ID

rs146091933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48327540 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCAGTCCTGGTGGACTCTCCCTG[A/G]GAAAGAGTCCCTGAATCTCTGGTAC

Phenotype

MIM: 615038 MIM: 602335

Polymorphism

A/G, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001313905.1	283	Missense Mutation	GAG,GGG	E33G	NP_001300834.1
NM_001425.2	283	Missense Mutation	GAG,GGG	E33G	NP_001416.1
XM_011526605.2	283	Missense Mutation	GAG,GGG	E33G	XP_011524907.1

Gene

TMEM143

Gene Name

transmembrane protein 143

There are no transcripts associated with this gene.

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