Product Details

SNP ID

rs201428513

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:76176889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTTTTTGCCTTTATAGAAGTGGAG[A/G]CCATTCTGCTTGAAGTTTAATGGGA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PBDC1 PubMed Links

Gene Details

Gene

PBDC1

Gene Name

polysaccharide biosynthesis domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300888.1	509	Intron			NP_001287817.1
NM_016500.3	509	Silent Mutation	AGA,AGG	R102R	NP_057584.2

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