Product Details

SNP ID
rs140698521
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:113825171 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCATGTTTCGCAAAATTTTCAAA[C/T]TCTACAAAAGAAAGGAAAAATGTTA
Phenotype
MIM: 600716
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AP4B1-AS1 PubMed Links

Gene Details

Gene
AP4B1-AS1
Gene Name
AP4B1 antisense RNA 1
There are no transcripts associated with this gene.

Gene
PTPN22
Gene Name
protein tyrosine phosphatase, non-receptor type 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193431.2 2388 Missense Mutation AAT,AGT N723S NP_001180360.1
NM_001308297.1 2388 Missense Mutation AAT,AGT N727S NP_001295226.1
NM_012411.5 2388 Missense Mutation AAT,AGT N696S NP_036543.4
NM_015967.6 2388 Missense Mutation AAT,AGT N751S NP_057051.3
XM_011541221.1 2388 Missense Mutation AAT,AGT N725S XP_011539523.1
XM_011541222.1 2388 Intron XP_011539524.1
XM_011541223.2 2388 Intron XP_011539525.1
XM_011541225.2 2388 Intron XP_011539527.1
XM_017001004.1 2388 Missense Mutation AAT,AGT N751S XP_016856493.1
XM_017001005.1 2388 Missense Mutation AAT,AGT N636S XP_016856494.1
XM_017001006.1 2388 Intron XP_016856495.1

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