Product Details

SNP ID
rs185768840
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:124675271 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGTTCTTACCAAGAAGATGTCG[A/G]TTCCATTCTCCAACACCCACTACCG
Phenotype
MIM: 610079 MIM: 608621
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SIAE PubMed Links

Gene Details

Gene
SIAE
Gene Name
sialic acid acetylesterase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199922.1 358 UTR 5 NP_001186851.1
NM_170601.4 358 Intron NP_733746.1
XM_017017930.1 358 Intron XP_016873419.1
Gene
SPA17
Gene Name
sperm autoantigenic protein 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017425.3 358 Missense Mutation ATT,GTT I3V NP_059121.1
XM_011542870.2 358 Missense Mutation ATT,GTT I3V XP_011541172.1

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