Product Details

SNP ID
rs2281563
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:31026140 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCCCTGCTGCTGCCGGGGAGGGG[C/T]CGCCATCCCCGGGCCGCCACCACCG
Phenotype
MIM: 607243 MIM: 614766
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AP4S1 PubMed Links

Gene Details

Gene
AP4S1
Gene Name
adaptor related protein complex 4 sigma 1 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128126.2 262 Intron NP_001121598.1
NM_001254726.1 262 Intron NP_001241655.1
NM_001254727.1 262 Intron NP_001241656.1
NM_001254728.1 262 Intron NP_001241657.1
NM_001254729.1 262 Intron NP_001241658.1
NM_007077.4 262 Intron NP_009008.2
XM_005267293.4 262 Intron XP_005267350.1
XM_011536371.2 262 Intron XP_011534673.1
XM_011536372.2 262 Intron XP_011534674.1
Gene
STRN3
Gene Name
striatin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001083893.1 262 Missense Mutation ACC,GCC T16A NP_001077362.1
NM_014574.3 262 Missense Mutation ACC,GCC T16A NP_055389.3
XM_005267569.3 262 Missense Mutation ACC,GCC T16A XP_005267626.1
XM_005267570.3 262 Missense Mutation ACC,GCC T16A XP_005267627.1

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