Product Details

SNP ID

rs113136747

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7626964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACCCCGATATTCCGGCATCACAT[A/G]GATATCCTCCAGATAAATGGTGCGT

Phenotype

MIM: 611463 MIM: 182205

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

SAT2 PubMed Links

Additional Information

For this assay, SNP(s) [rs858520] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	541	Missense Mutation	CAT,TAT	H174Y	NP_001307774.1
NM_001320846.1	541	Intron			NP_001307775.1
NM_001320847.1	541	Intron			NP_001307776.1
NM_133491.4	541	Missense Mutation	CAT,TAT	H95Y	NP_597998.1
XM_017024073.1	541	Missense Mutation	CAT,TAT	H174Y	XP_016879562.1
XM_017024074.1	541	Intron			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	541	Intron			NP_001031.2
NM_001146279.2	541	Intron			NP_001139751.1
NM_001146280.2	541	Intron			NP_001139752.1
NM_001146281.2	541	Intron			NP_001139753.1
NM_001289113.1	541	Intron			NP_001276042.1
NM_001289114.1	541	Intron			NP_001276043.1
NM_001289115.1	541	Intron			NP_001276044.1
NM_001289116.1	541	Intron			NP_001276045.1

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