Product Details

SNP ID

rs183115411

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:722941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCACCTGCCCAGGTGCTGGTCCA[C/T]GTACTCCTGTAGCTCAGAAAGTTGC

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	1655	Silent Mutation	ACA,ACG	T426T	NP_001026907.2
XM_006720838.1	1655	Missense Mutation	ATG,GTG	M526V	XP_006720901.1
XM_006720843.3	1655	Missense Mutation	ATG,GTG	M452V	XP_006720906.1
XM_011522356.1	1655	Missense Mutation	ATG,GTG	M601V	XP_011520658.1
XM_011522357.1	1655	Missense Mutation	ATG,GTG	M597V	XP_011520659.1
XM_011522358.2	1655	Intron			XP_011520660.1
XM_011522359.1	1655	Missense Mutation	ATG,GTG	M590V	XP_011520661.1
XM_011522360.1	1655	Missense Mutation	ATG,GTG	M586V	XP_011520662.1
XM_011522361.1	1655	Missense Mutation	ATG,GTG	M577V	XP_011520663.1
XM_011522362.1	1655	Silent Mutation	ACA,ACG	T575T	XP_011520664.1
XM_011522363.1	1655	Silent Mutation	ACA,ACG	T575T	XP_011520665.1
XM_011522364.1	1655	Intron			XP_011520666.1
XM_011522365.1	1655	Missense Mutation	ATG,GTG	M530V	XP_011520667.1
XM_011522366.1	1655	Missense Mutation	ATG,GTG	M527V	XP_011520668.1
XM_011522367.1	1655	Missense Mutation	ATG,GTG	M474V	XP_011520669.1
XM_011522368.1	1655	Missense Mutation	ATG,GTG	M470V	XP_011520670.1
XM_011522369.1	1655	Missense Mutation	ATG,GTG	M456V	XP_011520671.1
XM_011522370.1	1655	Missense Mutation	ATG,GTG	M400V	XP_011520672.1
XM_011522371.2	1655	Missense Mutation	ATG,GTG	M305V	XP_011520673.1
XM_017022929.1	1655	Intron			XP_016878418.1
XM_017022930.1	1655	Missense Mutation	ATG,GTG	M301V	XP_016878419.1
XM_017022931.1	1655	Missense Mutation	ATG,GTG	M242V	XP_016878420.1
XM_017022932.1	1655	Missense Mutation	ATG,GTG	M187V	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	1655	Intron			NP_001258214.1
NM_023933.2	1655	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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