Product Details

SNP ID
rs7717466
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:157672253 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCCCCTTCTCAGCCTCTCTTTTCCC[C/T]GGTGGTCCTGGAAAAAACCCCAGTT
Phenotype
MIM: 606698
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C5orf52 PubMed Links

Gene Details

Gene
C5orf52
Gene Name
chromosome 5 open reading frame 52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145132.1 Intron NP_001138604.1
XM_011534416.1 Intron XP_011532718.1
XM_017008909.1 Intron XP_016864398.1
Gene
SOX30
Gene Name
SRY-box 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308165.1 Intron NP_001295094.1
NM_007017.2 Intron NP_008948.1
NM_178424.1 Intron NP_848511.1
XM_005265803.4 Intron XP_005265860.1
XM_011534420.1 Intron XP_011532722.1

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