Product Details

SNP ID
rs119103258
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64746796 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTTCCGGATCACCATCCGCGTCC[G/A]CTCTCTTGGGTTCTGCAGGTCAAAG
Phenotype
MIM: 608455 MIM: 605577
Polymorphism
G/A, Transition Substitution
Allele Nomenclature
Literature Links
PYGM PubMed Links

Gene Details

Gene
PYGM
Gene Name
phosphorylase, glycogen, muscle
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164716.1 2945 Missense Mutation NP_001158188.1
Gene
RASGRP2
Gene Name
RAS guanyl releasing protein 2
There are no transcripts associated with this gene.

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