Product Details

SNP ID

rs145971446

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:723887 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGATGTTCCCCCCTGGGAGGCT[C/T]CACCGGGTCTCTTTTTTGGGGATGA

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	1404	Missense Mutation	GAA,GGA	E368G	NP_001026907.2
XM_006720838.1	1404	Missense Mutation	GAA,GGA	E442G	XP_006720901.1
XM_006720843.3	1404	Missense Mutation	GAA,GGA	E368G	XP_006720906.1
XM_011522356.1	1404	Missense Mutation	GAA,GGA	E517G	XP_011520658.1
XM_011522357.1	1404	Missense Mutation	GAA,GGA	E513G	XP_011520659.1
XM_011522358.2	1404	Missense Mutation	GAA,GGA	E517G	XP_011520660.1
XM_011522359.1	1404	Missense Mutation	GAA,GGA	E506G	XP_011520661.1
XM_011522360.1	1404	Missense Mutation	GAA,GGA	E502G	XP_011520662.1
XM_011522361.1	1404	Missense Mutation	GAA,GGA	E517G	XP_011520663.1
XM_011522362.1	1404	Missense Mutation	GAA,GGA	E517G	XP_011520664.1
XM_011522363.1	1404	Missense Mutation	GAA,GGA	E517G	XP_011520665.1
XM_011522364.1	1404	Missense Mutation	GAA,GGA	E517G	XP_011520666.1
XM_011522365.1	1404	Missense Mutation	GAA,GGA	E446G	XP_011520667.1
XM_011522366.1	1404	Missense Mutation	GAA,GGA	E443G	XP_011520668.1
XM_011522367.1	1404	Missense Mutation	GAA,GGA	E390G	XP_011520669.1
XM_011522368.1	1404	Missense Mutation	GAA,GGA	E386G	XP_011520670.1
XM_011522369.1	1404	Missense Mutation	GAA,GGA	E372G	XP_011520671.1
XM_011522370.1	1404	Missense Mutation	GAA,GGA	E316G	XP_011520672.1
XM_011522371.2	1404	Missense Mutation	GAA,GGA	E221G	XP_011520673.1
XM_017022929.1	1404	Missense Mutation	GAA,GGA	E517G	XP_016878418.1
XM_017022930.1	1404	Missense Mutation	GAA,GGA	E217G	XP_016878419.1
XM_017022931.1	1404	UTR 5			XP_016878420.1
XM_017022932.1	1404	Missense Mutation	GAA,GGA	E127G	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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