Product Details

SNP ID

rs3752041

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.17:80036749 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

GTCGCCAGGCCGCGCTCTCCGTTCA[A/C]CGCTCCAGGTGGCCCCCGCGTCGGC

Phenotype

MIM: 613799 MIM: 616637

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCDC40 PubMed Links

Gene Details

Gene

CCDC40

Gene Name

coiled-coil domain containing 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243342.1	89	Intron			NP_001230271.1
NM_017950.3	89	Intron			NP_060420.2
XM_005257492.4	89	Intron			XP_005257549.1
XM_011524963.2	89	UTR 5			XP_011523265.1
XM_011524964.2	89	Intron			XP_011523266.1
XM_011524965.2	89	Intron			XP_011523267.1
XM_017024807.1	89	Intron			XP_016880296.1

Gene

TBC1D16

Gene Name

TBC1 domain family member 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271844.1	89	Intron			NP_001258773.1
NM_001271845.1	89	Intron			NP_001258774.1
NM_001271846.1	89	Intron			NP_001258775.1
NM_019020.3	89	Intron			NP_061893.2
XM_005257049.2	89	Intron			XP_005257106.1
XM_005257050.3	89	Intron			XP_005257107.1
XM_005257052.3	89	Intron			XP_005257109.1
XM_006721694.3	89	Intron			XP_006721757.1
XM_006721695.3	89	Intron			XP_006721758.1
XM_011524322.2	89	Intron			XP_011522624.1
XM_011524323.2	89	Intron			XP_011522625.2
XM_011524324.2	89	Intron			XP_011522626.1
XM_017024185.1	89	Intron			XP_016879674.1
XM_017024186.1	89	Intron			XP_016879675.1
XM_017024187.1	89	Intron			XP_016879676.1
XM_017024188.1	89	Intron			XP_016879677.1

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