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ACATTTCCTGTAAGCATGCTGAAAG[C/T]GTGGAGACAGAAGGAAATGGTGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 172100 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PGM3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PGM3 - phosphoglucomutase 3 | ||||||
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There are no transcripts associated with this gene. |
RWDD2A - RWD domain containing 2A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001322335.1 | 730 | Silent Mutation | AGC,AGT | S,S 151 | NP_001309264.1 | |
NM_001322336.1 | 730 | Silent Mutation | AGC,AGT | S,S 160 | NP_001309265.1 | |
NM_001322337.1 | 730 | Silent Mutation | AGC,AGT | S,S 160 | NP_001309266.1 | |
NM_001322339.1 | 730 | Silent Mutation | AGC,AGT | S,S 160 | NP_001309268.1 | |
NM_033411.4 | 730 | Silent Mutation | AGC,AGT | S,S 226 | NP_219479.2 | |
XM_017010222.1 | 730 | Missense Mutation | AGC,AGT | S,S 160 | XP_016865711.1 | |
XM_017010223.1 | 730 | Missense Mutation | AGC,AGT | S,S 160 | XP_016865712.1 |