Product Details

SNP ID

rs192885582

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:730900 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGGGGCAGCGCCCTCGTTTGAGCC[G/T]CTGCACCAGGTTCTGGATGTTGCGG

Phenotype

MIM: 614666 MIM: 611118

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC78 PubMed Links

Gene Details

Gene

CCDC78

Gene Name

coiled-coil domain containing 78

There are no transcripts associated with this gene.

Gene

FAM173A

Gene Name

family with sequence similarity 173 member A

There are no transcripts associated with this gene.

Gene

HAGHL

Gene Name

hydroxyacylglutathione hydrolase-like

There are no transcripts associated with this gene.

Gene

NARFL

Gene Name

nuclear prelamin A recognition factor like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304799.1	1188	Silent Mutation	AGG,CGG	R277R	NP_001291728.1
NM_022493.2	1188	Silent Mutation	AGG,CGG	R379R	NP_071938.1

View Full Product Details