Product Details

SNP ID

rs144861993

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:3816297 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTCACCTGGCTGCAGTGCCGGG[G/T]CCTTCTGCAGAATGTGTGTCTTGCG

Phenotype

MIM: 616690

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CEP104 PubMed Links

Gene Details

Gene

CEP104

Gene Name

centrosomal protein 104

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014704.3	3106	Missense Mutation	GAC,GCC	D882A	NP_055519.1
XM_005244815.4	3106	Missense Mutation	GAC,GCC	D918A	XP_005244872.1
XM_011542473.2	3106	Missense Mutation	GAC,GCC	D924A	XP_011540775.1
XM_011542474.2	3106	Missense Mutation	GAC,GCC	D888A	XP_011540776.1
XM_011542475.2	3106	Missense Mutation	GAC,GCC	D866A	XP_011540777.1
XM_011542476.2	3106	Missense Mutation	GAC,GCC	D858A	XP_011540778.1
XM_011542477.2	3106	Missense Mutation	GAC,GCC	D800A	XP_011540779.1
XM_011542478.1	3106	Intron			XP_011540780.1
XM_017002917.1	3106	Missense Mutation	GAC,GCC	D860A	XP_016858406.1
XM_017002918.1	3106	Missense Mutation	GAC,GCC	D824A	XP_016858407.1
XM_017002919.1	3106	Missense Mutation	GAC,GCC	D816A	XP_016858408.1

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