Product Details

SNP ID

rs201602104

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:76175533 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAAAGTAGATGACCAAATTTAC[G/T]CTGAGTTCCGGAAAAATTTTGAGAC

Phenotype

Polymorphism

G/T, Transversion 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	420	Missense Mutation	GCT,TCT	A73S	NP_001287817.1
NM_016500.3	420	Missense Mutation	GCT,TCT	A73S	NP_057584.2

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