Product Details

SNP ID

rs1414367

Assay Type

Validated

NCBI dbSNP Submissions

47

Location

Chr.1:93181549 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AAGGACATTCATTTGACAGTAAATG[G/T]CCCACTAGGAAAATGAAAACATTTT

Phenotype

MIM: 616876

Polymorphism

G/T, 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		Intron			NP_001293005.1
NM_206886.4		Intron			NP_996769.3
XM_011541361.2		Intron			XP_011539663.2
XM_011541372.2		Intron			XP_011539674.2
XM_017001154.1		Intron			XP_016856643.1
XM_017001155.1		Intron			XP_016856644.1
XM_017001156.1		Intron			XP_016856645.1
XM_017001157.1		Intron			XP_016856646.1
XM_017001158.1		Intron			XP_016856647.1
XM_017001159.1		Intron			XP_016856648.1
XM_017001160.1		Intron			XP_016856649.1
XM_017001161.1		Intron			XP_016856650.1
XM_017001162.1		Intron			XP_016856651.1
XM_017001163.1		Intron			XP_016856652.1
XM_017001164.1		Intron			XP_016856653.1
XM_017001165.1		Intron			XP_016856654.1
XM_017001166.1		Intron			XP_016856655.1
XM_017001167.1		Intron			XP_016856656.1
XM_017001168.1		Intron			XP_016856657.1
XM_017001169.1		Intron			XP_016856658.1
XM_017001170.1		Intron			XP_016856659.1
XM_017001171.1		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		Intron			NP_001161302.1
NM_016040.4		Intron			NP_057124.3

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