Product Details

SNP ID

rs78990130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:59432746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGGAATAGTTTCATGAAACCCAG[A/G]CAATACTACTTTCCATTAATTCTTT

Phenotype

MIM: 612753

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCBE1 PubMed Links

Gene Details

Gene

CCBE1

Gene Name

collagen and calcium binding EGF domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133459.3	4453	UTR 3			NP_597716.1
XM_017025556.1	4453	Intron			XP_016881045.1
XM_017025557.1	4453	Intron			XP_016881046.1
XM_017025558.1	4453	Intron			XP_016881047.1

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