Product Details

SNP ID
rs28384428
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:35586970 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CTGGGCTATATCACCATTGTCCGCC[C/T]TTGAGCCTGGAAGGAAAATGAGCTG
Phenotype
MIM: 601025 MIM: 601758
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AP2B1 PubMed Links

Gene Details

Gene
AP2B1
Gene Name
adaptor related protein complex 2 beta 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001030006.1 72 Intron NP_001025177.1
NM_001282.2 72 Intron NP_001273.1
XM_005257937.3 72 Intron XP_005257994.1
XM_005257938.2 72 Intron XP_005257995.1
XM_005257941.2 72 Intron XP_005257998.1
XM_011524448.1 72 UTR 5 XP_011522750.1
XM_011524449.2 72 Intron XP_011522751.1
XM_011524450.1 72 Intron XP_011522752.1
XM_011524451.1 72 Intron XP_011522753.1
XM_011524452.1 72 Intron XP_011522754.1
XM_011524453.1 72 Intron XP_011522755.1
XM_011524454.1 72 Intron XP_011522756.1
XM_011524455.2 72 Intron XP_011522757.1
XM_017024284.1 72 Intron XP_016879773.1
XM_017024285.1 72 Intron XP_016879774.1
XM_017024286.1 72 Intron XP_016879775.1
XM_017024287.1 72 Intron XP_016879776.1
Gene
PEX12
Gene Name
peroxisomal biogenesis factor 12
There are no transcripts associated with this gene.

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