Product Details

SNP ID

rs200134493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:196707819 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCGACAAGTAACCTCGTAAAAAA[C/G]TGAATAGCTTCTCTAGCTGCCTCAG

Phenotype

MIM: 615586 MIM: 610276

Polymorphism

C/G, Transversion 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	396	Missense Mutation	ACT,AGT	T79S	NP_116287.2
XM_005269370.4	396	Missense Mutation	ACT,AGT	T79S	XP_005269427.1
XM_011513246.2	396	Missense Mutation	ACT,AGT	T79S	XP_011511548.1

Gene

PIGX

Gene Name

phosphatidylinositol glycan anchor biosynthesis class X

There are no transcripts associated with this gene.

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