Product Details

SNP ID
rs12223695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64746449 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGGGTGCAGTTGGTCAGACCCCA[C/T]AAATAGGAGGGGACCGGGAGCCCGA
Phenotype
MIM: 608455 MIM: 605577
Polymorphism
C/T, 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 3292 UTR 3 NP_001158188.1
Gene
RASGRP2
Gene Name
RAS guanyl releasing protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098670.1 3292 Intron NP_001092140.1
NM_001098671.1 3292 Intron NP_001092141.1
NM_001318398.1 3292 Intron NP_001305327.1
NM_153819.1 3292 Intron NP_722541.1
XM_005273707.3 3292 Intron XP_005273764.3
XM_011544718.1 3292 Intron XP_011543020.1
XM_011544720.1 3292 Intron XP_011543022.1
XM_011544721.1 3292 Intron XP_011543023.1
XM_011544722.1 3292 Intron XP_011543024.1
XM_011544723.2 3292 Intron XP_011543025.1
XM_011544725.2 3292 Intron XP_011543027.1
XM_017017082.1 3292 Intron XP_016872571.1
XM_017017083.1 3292 Intron XP_016872572.1
XM_017017084.1 3292 Intron XP_016872573.1
XM_017017085.1 3292 Intron XP_016872574.1
XM_017017086.1 3292 Intron XP_016872575.1

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