Product Details

SNP ID

rs200499663

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:76177671 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCTCGGAACCGGGAAGGCTATAA[C/T]AAAGCTGTTTATATCAGTGTTCAGG

Phenotype

Polymorphism

C/T, 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	668	Missense Mutation	ACA,ATA	T118I	NP_001287817.1
NM_016500.3	668	Silent Mutation	AAC,AAT	N155N	NP_057584.2

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