Product Details

SNP ID
rs139333090
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:83194538 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATGTTTCCTAACCAAGGAGAAGT[A/G]AAACTTGAAGATGTAAATGCCCTGA
Phenotype
MIM: 172100
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PGM3 PubMed Links

Gene Details

Gene
PGM3
Gene Name
phosphoglucomutase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199917.1 139 Intron NP_001186846.1
NM_001199918.1 139 Intron NP_001186847.1
NM_001199919.1 139 Intron NP_001186848.1
NM_015599.2 139 Intron NP_056414.1
XM_017010935.1 139 Intron XP_016866424.1
XM_017010936.1 139 Intron XP_016866425.1
XM_017010937.1 139 Intron XP_016866426.1
XM_017010938.1 139 Intron XP_016866427.1
Gene
RWDD2A
Gene Name
RWD domain containing 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322335.1 139 UTR 5 NP_001309264.1
NM_001322336.1 139 UTR 5 NP_001309265.1
NM_001322337.1 139 UTR 5 NP_001309266.1
NM_001322339.1 139 UTR 5 NP_001309268.1
NM_033411.4 139 Silent Mutation GTA,GTG V29V NP_219479.2
XM_017010222.1 139 UTR 5 XP_016865711.1
XM_017010223.1 139 UTR 5 XP_016865712.1

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