Product Details

SNP ID
rs73439096
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:10694681 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCAGAGGATGTCCCGCCCGCTCCC[C/T]TCAGACGGGCGTAGCTGGCACCTTC
Phenotype
MIM: 607811
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C6orf52 PubMed Links

Gene Details

Gene
C6orf52
Gene Name
chromosome 6 open reading frame 52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145020.1 104 Intron NP_001138492.1
XM_006715088.3 104 UTR 5 XP_006715151.1
XM_011514572.2 104 Silent Mutation GAA,GAG E30E XP_011512874.1
XM_011514574.2 104 Silent Mutation GAA,GAG E30E XP_011512876.1
XM_011514575.2 104 UTR 5 XP_011512877.1
Gene
PAK1IP1
Gene Name
PAK1 interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017906.2 104 Intron NP_060376.2
XM_005249204.2 104 Intron XP_005249261.1
XM_011514720.1 104 Intron XP_011513022.1
XM_011514721.1 104 Intron XP_011513023.1

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