Product Details

SNP ID

rs61799468

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:93180597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAATGTAGTCCCGGGCGGGCTCCG[A/C]TAGTGGGCTCGGGCGCGCTCGCCGA

Phenotype

MIM: 616876

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCDC18 PubMed Links

Gene Details

Gene

CCDC18

Gene Name

coiled-coil domain containing 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306076.1	91	Intron			NP_001293005.1
NM_206886.4	91	Intron			NP_996769.3
XM_011541361.2	91	Missense Mutation	ATA,CTA	I23L	XP_011539663.2
XM_011541372.2	91	Missense Mutation	ATA,CTA	I23L	XP_011539674.2
XM_017001154.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856643.1
XM_017001155.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856644.1
XM_017001156.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856645.1
XM_017001157.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856646.1
XM_017001158.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856647.1
XM_017001159.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856648.1
XM_017001160.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856649.1
XM_017001161.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856650.1
XM_017001162.1	91	Intron			XP_016856651.1
XM_017001163.1	91	Intron			XP_016856652.1
XM_017001164.1	91	Intron			XP_016856653.1
XM_017001165.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856654.1
XM_017001166.1	91	Intron			XP_016856655.1
XM_017001167.1	91	Intron			XP_016856656.1
XM_017001168.1	91	Intron			XP_016856657.1
XM_017001169.1	91	Missense Mutation	ATA,CTA	I23L	XP_016856658.1
XM_017001170.1	91	Intron			XP_016856659.1
XM_017001171.1	91	Intron			XP_016856660.1

Gene

TMED5

Gene Name

transmembrane p24 trafficking protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167830.1	91	UTR 5			NP_001161302.1
NM_016040.4	91	UTR 5			NP_057124.3

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