Product Details

SNP ID

rs201908078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17517310 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCATTCCAAGGGGACTCCATCC[C/T]GGTTTTCGACCTGCTGATCCTGGGG

Phenotype

MIM: 609967 MIM: 604951

Polymorphism

C/T, 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	1069	Missense Mutation	CCG,CTG	P140L	NP_036220.1
XM_011527897.2	1069	Missense Mutation	CCG,CTG	P52L	XP_011526199.1

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