Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGTGCATGAGCATATTGACAATGT[A/C]CTTGAACAGGTCGGGCTGTTTGGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608455 MIM: 605577 | ||||||||||||||||||||
Literature Links: |
PYGM PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
PYGM - phosphorylase, glycogen, muscle | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164716.1 | 2834 | Missense Mutation | GAC,TAC | D,Y 673 | NP_001158188.1 |
RASGRP2 - RAS guanyl releasing protein 2 | ||||||
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There are no transcripts associated with this gene. |