Product Details

SNP ID
rs180956905
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:47143600 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGGACTGACCATGCTGGATCAC[A/G]AACAGGTGCGCTGTTGTGAGCTCAT
Phenotype
MIM: 613294
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SAE1 PubMed Links

Gene Details

Gene
SAE1
Gene Name
SUMO1 activating enzyme subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145713.1 313 Missense Mutation AAA,GAA K69E NP_001139185.1
NM_001145714.1 313 Missense Mutation AAA,GAA K69E NP_001139186.1
NM_005500.2 313 Missense Mutation AAA,GAA K69E NP_005491.1
XM_006722963.2 313 Intron XP_006723026.1
XM_006722965.3 313 Missense Mutation AAA,GAA K105E XP_006723028.1
XM_017026135.1 313 Missense Mutation AAA,GAA K105E XP_016881624.1
XM_017026136.1 313 Intron XP_016881625.1

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