Product Details

SNP ID
rs146546344
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:16203572 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGCTGTCGCCCATCCTGGCCCA[C/G]GGGGGGGTCCGTTTCATGTGGATCA
Phenotype
MIM: 603535
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
AP1M1 PubMed Links

Gene Details

Gene
AP1M1
Gene Name
adaptor related protein complex 1 mu 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130524.1 329 Missense Mutation CAC,CAG H52Q NP_001123996.1
NM_032493.3 329 Missense Mutation CAC,CAG H52Q NP_115882.1
XM_017027420.1 329 Missense Mutation CAC,CAG H26Q XP_016882909.1
XM_017027421.1 329 Missense Mutation CAC,CAG H26Q XP_016882910.1

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