Product Details

SNP ID
rs144967278
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7627570 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGTTACCGGCCTGCAGTCTTCAC[A/C]CGAATCAGCCTCAGGATATCTCCAC
Phenotype
MIM: 611463 MIM: 182205
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SAT2 PubMed Links

Gene Details

Gene
SAT2
Gene Name
spermidine/spermine N1-acetyltransferase family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320845.1 307 Missense Mutation GGT,TGT G96C NP_001307774.1
NM_001320846.1 307 Missense Mutation GGT,TGT G96C NP_001307775.1
NM_001320847.1 307 Silent Mutation CGG,CGT R22R NP_001307776.1
NM_133491.4 307 Silent Mutation CGG,CGT R22R NP_597998.1
XM_017024073.1 307 Missense Mutation GGT,TGT G96C XP_016879562.1
XM_017024074.1 307 Missense Mutation GGT,TGT G96C XP_016879563.1
Gene
SHBG
Gene Name
sex hormone binding globulin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040.4 307 Intron NP_001031.2
NM_001146279.2 307 Intron NP_001139751.1
NM_001146280.2 307 Intron NP_001139752.1
NM_001146281.2 307 Intron NP_001139753.1
NM_001289113.1 307 Intron NP_001276042.1
NM_001289114.1 307 Intron NP_001276043.1
NM_001289115.1 307 Intron NP_001276044.1
NM_001289116.1 307 Intron NP_001276045.1

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