Product Details

SNP ID

rs139345182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:730924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGCACCAGGTTCTGGATGTTGC[A/G]GAAGCCGTACGCCATTGCGAAGTGC

Phenotype

MIM: 614666 MIM: 611118

Polymorphism

A/G, Transition 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	1164	Missense Mutation	CGC,TGC	R269C	NP_001291728.1
NM_022493.2	1164	Missense Mutation	CGC,TGC	R371C	NP_071938.1

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