Product Details

SNP ID
rs143569199
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17516174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATTGTCCCTCTGTTGGCTGCAGA[C/T]GCATCTTCTCTCCAGACTGCCGATC
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_012088.2 940 Missense Mutation ACG,ATG T97M NP_036220.1
XM_011527897.2 940 Missense Mutation ACG,ATG T9M XP_011526199.1

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