Product Details

SNP ID

rs200866589

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:722313 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGCTGTTCTCTCCCTCAGCTCC[C/G]GCTGCTGGAGGACAAGCTGCGGACA

Phenotype

MIM: 614666 MIM: 610998 MIM: 611118

Polymorphism

C/G, Transversion 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	597	Intron			NP_001026907.2
XM_006720838.1	597	Intron			XP_006720901.1
XM_006720843.3	597	Intron			XP_006720906.1
XM_011522356.1	597	Intron			XP_011520658.1
XM_011522357.1	597	Intron			XP_011520659.1
XM_011522358.2	597	Intron			XP_011520660.1
XM_011522359.1	597	Intron			XP_011520661.1
XM_011522360.1	597	Intron			XP_011520662.1
XM_011522361.1	597	Intron			XP_011520663.1
XM_011522362.1	597	Intron			XP_011520664.1
XM_011522363.1	597	Intron			XP_011520665.1
XM_011522364.1	597	Intron			XP_011520666.1
XM_011522365.1	597	Intron			XP_011520667.1
XM_011522366.1	597	Intron			XP_011520668.1
XM_011522367.1	597	Intron			XP_011520669.1
XM_011522368.1	597	Intron			XP_011520670.1
XM_011522369.1	597	Intron			XP_011520671.1
XM_011522370.1	597	Intron			XP_011520672.1
XM_011522371.2	597	Intron			XP_011520673.1
XM_017022929.1	597	Intron			XP_016878418.1
XM_017022930.1	597	Intron			XP_016878419.1
XM_017022931.1	597	Intron			XP_016878420.1
XM_017022932.1	597	Intron			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	597	Missense Mutation	CCG,CGG	P138R	NP_001258214.1
NM_023933.2	597	Missense Mutation	CCG,CGG	P155R	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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