Product Details

SNP ID
rs148128174
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:83195876 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACATTCCTCCGAATGTGGATCTA[C/T]AGTCACCATATATATCAGCAGGACC
Phenotype
MIM: 172100
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PGM3 PubMed Links

Gene Details

Gene
PGM3
Gene Name
phosphoglucomutase 3
There are no transcripts associated with this gene.

Gene
RWDD2A
Gene Name
RWD domain containing 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322335.1 535 Silent Mutation TAC,TAT Y86Y NP_001309264.1
NM_001322336.1 535 Silent Mutation TAC,TAT Y95Y NP_001309265.1
NM_001322337.1 535 Silent Mutation TAC,TAT Y95Y NP_001309266.1
NM_001322339.1 535 Silent Mutation TAC,TAT Y95Y NP_001309268.1
NM_033411.4 535 Silent Mutation TAC,TAT Y161Y NP_219479.2
XM_017010222.1 535 Silent Mutation TAC,TAT Y95Y XP_016865711.1
XM_017010223.1 535 Silent Mutation TAC,TAT Y95Y XP_016865712.1

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