Product Details

SNP ID

rs200051096

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:727581 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTCATCGAGGAGCTCACGCGCGA[C/G]GCGGTGGCCGTGGACGTGGCTGTGC

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	570	Intron			NP_001026907.2
XM_006720838.1	570	Intron			XP_006720901.1
XM_006720843.3	570	Intron			XP_006720906.1
XM_011522356.1	570	Intron			XP_011520658.1
XM_011522357.1	570	Intron			XP_011520659.1
XM_011522358.2	570	Intron			XP_011520660.1
XM_011522359.1	570	Intron			XP_011520661.1
XM_011522360.1	570	Intron			XP_011520662.1
XM_011522361.1	570	Intron			XP_011520663.1
XM_011522362.1	570	Intron			XP_011520664.1
XM_011522363.1	570	Intron			XP_011520665.1
XM_011522364.1	570	Intron			XP_011520666.1
XM_011522365.1	570	Intron			XP_011520667.1
XM_011522366.1	570	Intron			XP_011520668.1
XM_011522367.1	570	Intron			XP_011520669.1
XM_011522368.1	570	Intron			XP_011520670.1
XM_011522369.1	570	Intron			XP_011520671.1
XM_011522370.1	570	Intron			XP_011520672.1
XM_011522371.2	570	Intron			XP_011520673.1
XM_017022929.1	570	Intron			XP_016878418.1
XM_017022930.1	570	Intron			XP_016878419.1
XM_017022931.1	570	Intron			XP_016878420.1
XM_017022932.1	570	Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290137.1	570	Missense Mutation	GAC,GAG	D24E	NP_001277066.1
NM_001290139.1	570	Missense Mutation	GAC,GAG	D24E	NP_001277068.1
NM_001323635.1	570	Missense Mutation	GAC,GAG	D24E	NP_001310564.1
NM_001323636.1	570	Missense Mutation	GAC,GAG	D24E	NP_001310565.1
NM_032304.3	570	Missense Mutation	GAC,GAG	D24E	NP_115680.1
XM_005255631.4	570	Missense Mutation	GAC,GAG	D24E	XP_005255688.1
XM_005255632.1	570	Missense Mutation	GAC,GAG	D24E	XP_005255689.1
XM_011522711.1	570	Missense Mutation	GAC,GAG	D24E	XP_011521013.1
XM_011522712.1	570	Missense Mutation	GAC,GAG	D24E	XP_011521014.1
XM_017023773.1	570	Missense Mutation	GAC,GAG	D24E	XP_016879262.1
XM_017023774.1	570	Missense Mutation	GAC,GAG	D24E	XP_016879263.1

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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