Product Details

SNP ID
rs147712188
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219329736 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCATCTTTTGGATCATTGCATC[C/T]TGGGTGATGTCATCCTTCCAGAACA
Phenotype
MIM: 612721
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RESP18 PubMed Links

Gene Details

Gene
RESP18
Gene Name
regulated endocrine specific protein 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007089.3 366 Silent Mutation CAA,CAG Q122Q NP_001007090.3
XM_011511165.2 366 Silent Mutation CAA,CAG Q62Q XP_011509467.1
XM_011511167.2 366 UTR 5 XP_011509469.1
XM_017004079.1 366 UTR 5 XP_016859568.1

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