Product Details

SNP ID
rs200205808
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:44320308 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGGTTTTGCCATTTGAGGAATG[C/A]CAGCCACTATGTTGTGTACACAAGA
Phenotype
MIM: 609557 MIM: 104614
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
PREPL PubMed Links

Gene Details

Gene
PREPL
Gene Name
prolyl endopeptidase-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042385.2 1805 UTR 3 NP_001035844.1
NM_001042386.2 1805 UTR 3 NP_001035845.1
NM_001171603.1 1805 UTR 3 NP_001165074.1
NM_001171606.1 1805 UTR 3 NP_001165077.1
NM_001171613.1 1805 UTR 3 NP_001165084.1
NM_001171617.1 1805 UTR 3 NP_001165088.1
NM_006036.4 1805 UTR 3 NP_006027.2
XM_011533198.1 1805 UTR 3 XP_011531500.1
XM_011533200.1 1805 UTR 3 XP_011531502.1
XM_011533202.1 1805 UTR 3 XP_011531504.1
XM_017005384.1 1805 UTR 3 XP_016860873.1
XM_017005385.1 1805 UTR 3 XP_016860874.1
Gene
SLC3A1
Gene Name
solute carrier family 3 member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000341.3 1805 Missense Mutation GAC,GCC D576A NP_000332.2
XM_011533047.2 1805 Intron XP_011531349.1

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