Product Details

SNP ID

rs148276717

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:722985 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTTGCTCTTCAGCCATCGTGGCC[C/T]GGACCAGCAGCTGTGCCCGCTCCCG

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	1611	Missense Mutation	AGG,GGG	R412G	NP_001026907.2
XM_006720838.1	1611	Missense Mutation	CAG,CGG	Q511R	XP_006720901.1
XM_006720843.3	1611	Missense Mutation	CAG,CGG	Q437R	XP_006720906.1
XM_011522356.1	1611	Missense Mutation	CAG,CGG	Q586R	XP_011520658.1
XM_011522357.1	1611	Missense Mutation	CAG,CGG	Q582R	XP_011520659.1
XM_011522358.2	1611	Missense Mutation	CAG,CGG	Q586R	XP_011520660.1
XM_011522359.1	1611	Missense Mutation	CAG,CGG	Q575R	XP_011520661.1
XM_011522360.1	1611	Missense Mutation	CAG,CGG	Q571R	XP_011520662.1
XM_011522361.1	1611	Missense Mutation	CAG,CGG	Q562R	XP_011520663.1
XM_011522362.1	1611	Missense Mutation	AGG,GGG	R561G	XP_011520664.1
XM_011522363.1	1611	Missense Mutation	AGG,GGG	R561G	XP_011520665.1
XM_011522364.1	1611	Missense Mutation	AGG,GGG	R561G	XP_011520666.1
XM_011522365.1	1611	Missense Mutation	CAG,CGG	Q515R	XP_011520667.1
XM_011522366.1	1611	Missense Mutation	CAG,CGG	Q512R	XP_011520668.1
XM_011522367.1	1611	Missense Mutation	CAG,CGG	Q459R	XP_011520669.1
XM_011522368.1	1611	Missense Mutation	CAG,CGG	Q455R	XP_011520670.1
XM_011522369.1	1611	Missense Mutation	CAG,CGG	Q441R	XP_011520671.1
XM_011522370.1	1611	Missense Mutation	CAG,CGG	Q385R	XP_011520672.1
XM_011522371.2	1611	Missense Mutation	CAG,CGG	Q290R	XP_011520673.1
XM_017022929.1	1611	Missense Mutation	CAG,CGG	Q562R	XP_016878418.1
XM_017022930.1	1611	Missense Mutation	CAG,CGG	Q286R	XP_016878419.1
XM_017022931.1	1611	Missense Mutation	CAG,CGG	Q227R	XP_016878420.1
XM_017022932.1	1611	Missense Mutation	CAG,CGG	Q172R	XP_016878421.1

Gene

FAM173A

Gene Name

family with sequence similarity 173 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271285.1	1611	Intron			NP_001258214.1
NM_023933.2	1611	Intron			NP_076422.1

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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