Product Details

SNP ID
rs144175318
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:135905317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATGGCCAATCTCGAACTGACAAA[A/G]TCTTGTCAACTGCTCCACCACAGCT
Phenotype
MIM: 300359
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SAGE1 PubMed Links

Gene Details

Gene
SAGE1
Gene Name
sarcoma antigen 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018666.2 554 Missense Mutation ATC,GTC I127V NP_061136.2
XM_017029621.1 554 Missense Mutation ATC,GTC I127V XP_016885110.1
XM_017029622.1 554 Intron XP_016885111.1
XM_017029623.1 554 Missense Mutation ATC,GTC I127V XP_016885112.1
XM_017029624.1 554 Missense Mutation ATC,GTC I96V XP_016885113.1
XM_017029625.1 554 Missense Mutation ATC,GTC I127V XP_016885114.1
XM_017029626.1 554 Intron XP_016885115.1
XM_017029627.1 554 Intron XP_016885116.1

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