Product Details

SNP ID
rs201225112
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:16203601 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTCCGTTTCATGTGGATCAAAC[A/G]CAACAACCTGTATCGTATCCCTTTG
Phenotype
MIM: 603535
Polymorphism
A/G, Transition 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_001130524.1 358 Missense Mutation CAC,CGC H62R NP_001123996.1
NM_032493.3 358 Missense Mutation CAC,CGC H62R NP_115882.1
XM_017027420.1 358 Missense Mutation CAC,CGC H36R XP_016882909.1
XM_017027421.1 358 Missense Mutation CAC,CGC H36R XP_016882910.1

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