Product Details

SNP ID

rs139766874

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:724357 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTAGCTCTTCATGCCTGCGGCT[C/G]AGATCCACCAGCCTCTTGTGGTAGC

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	1219	Silent Mutation	CTC,CTG	L306L	NP_001026907.2
XM_006720838.1	1219	Silent Mutation	CTC,CTG	L380L	XP_006720901.1
XM_006720843.3	1219	Silent Mutation	CTC,CTG	L306L	XP_006720906.1
XM_011522356.1	1219	Silent Mutation	CTC,CTG	L455L	XP_011520658.1
XM_011522357.1	1219	Silent Mutation	CTC,CTG	L451L	XP_011520659.1
XM_011522358.2	1219	Silent Mutation	CTC,CTG	L455L	XP_011520660.1
XM_011522359.1	1219	Silent Mutation	CTC,CTG	L444L	XP_011520661.1
XM_011522360.1	1219	Silent Mutation	CTC,CTG	L440L	XP_011520662.1
XM_011522361.1	1219	Silent Mutation	CTC,CTG	L455L	XP_011520663.1
XM_011522362.1	1219	Silent Mutation	CTC,CTG	L455L	XP_011520664.1
XM_011522363.1	1219	Silent Mutation	CTC,CTG	L455L	XP_011520665.1
XM_011522364.1	1219	Silent Mutation	CTC,CTG	L455L	XP_011520666.1
XM_011522365.1	1219	Silent Mutation	CTC,CTG	L384L	XP_011520667.1
XM_011522366.1	1219	Silent Mutation	CTC,CTG	L381L	XP_011520668.1
XM_011522367.1	1219	Silent Mutation	CTC,CTG	L328L	XP_011520669.1
XM_011522368.1	1219	Silent Mutation	CTC,CTG	L324L	XP_011520670.1
XM_011522369.1	1219	Silent Mutation	CTC,CTG	L310L	XP_011520671.1
XM_011522370.1	1219	Silent Mutation	CTC,CTG	L254L	XP_011520672.1
XM_011522371.2	1219	Silent Mutation	CTC,CTG	L159L	XP_011520673.1
XM_017022929.1	1219	Silent Mutation	CTC,CTG	L455L	XP_016878418.1
XM_017022930.1	1219	Silent Mutation	CTC,CTG	L155L	XP_016878419.1
XM_017022931.1	1219	Intron			XP_016878420.1
XM_017022932.1	1219	Silent Mutation	CTC,CTG	L65L	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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