Product Details

SNP ID

rs12599130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:722842 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTGCCCAGCTGTGGACAGGTCTGC[C/T]TTTAGCGCCTGAGGCAGCCATCATC

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	1913	Intron			NP_001026907.2
XM_006720838.1	1913	Intron			XP_006720901.1
XM_006720843.3	1913	Intron			XP_006720906.1
XM_011522356.1	1913	Intron			XP_011520658.1
XM_011522357.1	1913	Intron			XP_011520659.1
XM_011522358.2	1913	Intron			XP_011520660.1
XM_011522359.1	1913	Intron			XP_011520661.1
XM_011522360.1	1913	Intron			XP_011520662.1
XM_011522361.1	1913	Intron			XP_011520663.1
XM_011522362.1	1913	UTR 3			XP_011520664.1
XM_011522363.1	1913	Intron			XP_011520665.1
XM_011522364.1	1913	Intron			XP_011520666.1
XM_011522365.1	1913	Intron			XP_011520667.1
XM_011522366.1	1913	Intron			XP_011520668.1
XM_011522367.1	1913	Intron			XP_011520669.1
XM_011522368.1	1913	Intron			XP_011520670.1
XM_011522369.1	1913	Intron			XP_011520671.1
XM_011522370.1	1913	Intron			XP_011520672.1
XM_011522371.2	1913	Intron			XP_011520673.1
XM_017022929.1	1913	Intron			XP_016878418.1
XM_017022930.1	1913	Intron			XP_016878419.1
XM_017022931.1	1913	Intron			XP_016878420.1
XM_017022932.1	1913	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	1913	Intron			NP_001258214.1
NM_023933.2	1913	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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