Product Details

SNP ID

rs200664509

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17516218 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGATCCCAGAAAGCCAGGTGATC[A/G]CCATTAACCCCGAGCTGCCTGTGGA

Phenotype

MIM: 609967 MIM: 604951

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM129C PubMed Links

Gene Details

Gene

FAM129C

Gene Name

family with sequence similarity 129 member C

There are no transcripts associated with this gene.

Gene

PGLS

Gene Name

6-phosphogluconolactonase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012088.2	984	Missense Mutation	ACC,GCC	T112A	NP_036220.1
XM_011527897.2	984	Missense Mutation	ACC,GCC	T24A	XP_011526199.1

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