Product Details

SNP ID

rs844543

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:196712392 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGCAGGCAGCTGGGAACCGCGG[A/G]CGCTAGGCGCGCGCACCCAGCACTC

Phenotype

MIM: 615586 MIM: 610276

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP19 PubMed Links

Gene Details

Gene

CEP19

Gene Name

centrosomal protein 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032898.4	19	Intron			NP_116287.2
XM_005269370.4	19	Intron			XP_005269427.1
XM_011513246.2	19	Intron			XP_011511548.1

Gene

PIGX

Gene Name

phosphatidylinositol glycan anchor biosynthesis class X

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166304.1	19	UTR 5			NP_001159776.1
NM_017861.3	19	UTR 5			NP_060331.3

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