Product Details

SNP ID

rs199867890

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:723930 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGATGAGAGCAGTGCCCCAGGCC[C/T]GCCGTGCTACAGAGGTTTGTGGTGG

Phenotype

MIM: 614666 MIM: 610998 MIM: 611118

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC78 PubMed Links

Gene Details

Gene

CCDC78

Gene Name

coiled-coil domain containing 78

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031737.2	1361	Missense Mutation	AGG,GGG	R354G	NP_001026907.2
XM_006720838.1	1361	Missense Mutation	AGG,GGG	R428G	XP_006720901.1
XM_006720843.3	1361	Missense Mutation	AGG,GGG	R354G	XP_006720906.1
XM_011522356.1	1361	Missense Mutation	AGG,GGG	R503G	XP_011520658.1
XM_011522357.1	1361	Missense Mutation	AGG,GGG	R499G	XP_011520659.1
XM_011522358.2	1361	Missense Mutation	AGG,GGG	R503G	XP_011520660.1
XM_011522359.1	1361	Missense Mutation	AGG,GGG	R492G	XP_011520661.1
XM_011522360.1	1361	Missense Mutation	AGG,GGG	R488G	XP_011520662.1
XM_011522361.1	1361	Missense Mutation	AGG,GGG	R503G	XP_011520663.1
XM_011522362.1	1361	Missense Mutation	AGG,GGG	R503G	XP_011520664.1
XM_011522363.1	1361	Missense Mutation	AGG,GGG	R503G	XP_011520665.1
XM_011522364.1	1361	Missense Mutation	AGG,GGG	R503G	XP_011520666.1
XM_011522365.1	1361	Missense Mutation	AGG,GGG	R432G	XP_011520667.1
XM_011522366.1	1361	Missense Mutation	AGG,GGG	R429G	XP_011520668.1
XM_011522367.1	1361	Missense Mutation	AGG,GGG	R376G	XP_011520669.1
XM_011522368.1	1361	Missense Mutation	AGG,GGG	R372G	XP_011520670.1
XM_011522369.1	1361	Missense Mutation	AGG,GGG	R358G	XP_011520671.1
XM_011522370.1	1361	Missense Mutation	AGG,GGG	R302G	XP_011520672.1
XM_011522371.2	1361	Missense Mutation	AGG,GGG	R207G	XP_011520673.1
XM_017022929.1	1361	Missense Mutation	AGG,GGG	R503G	XP_016878418.1
XM_017022930.1	1361	Missense Mutation	AGG,GGG	R203G	XP_016878419.1
XM_017022931.1	1361	UTR 5			XP_016878420.1
XM_017022932.1	1361	Missense Mutation	AGG,GGG	R113G	XP_016878421.1

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

METRN

Gene Name

meteorin, glial cell differentiation regulator

There are no transcripts associated with this gene.

Gene

NARFL

Gene Name

nuclear prelamin A recognition factor like

There are no transcripts associated with this gene.

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