Product Details

SNP ID
rs140963299
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7627414 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAGTTTTTCGAATTCGGCTAGCT[C/T]CTAAGGCGTGGGTACGGAAGCTAGA
Phenotype
MIM: 611463 MIM: 182205
Polymorphism
C/T, Transition 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_001320845.1 325 Missense Mutation AAG,GAG K102E NP_001307774.1
NM_001320846.1 325 Missense Mutation AAG,GAG K102E NP_001307775.1
NM_001320847.1 325 Missense Mutation AAG,GAG K23E NP_001307776.1
NM_133491.4 325 Missense Mutation AAG,GAG K23E NP_597998.1
XM_017024073.1 325 Missense Mutation AAG,GAG K102E XP_016879562.1
XM_017024074.1 325 Missense Mutation AAG,GAG K102E 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_001040.4 325 Intron NP_001031.2
NM_001146279.2 325 Intron NP_001139751.1
NM_001146280.2 325 Intron NP_001139752.1
NM_001146281.2 325 Intron NP_001139753.1
NM_001289113.1 325 Intron NP_001276042.1
NM_001289114.1 325 Intron NP_001276043.1
NM_001289115.1 325 Intron NP_001276044.1
NM_001289116.1 325 Intron NP_001276045.1

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