Product Details

SNP ID
rs191992256
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:135905276 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGCTACCATCGCTCACAATATCC[A/G]TGAAGAGAGGATGGAAAATGGCCAA
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_018666.2 513 Missense Mutation CAT,CGT H113R NP_061136.2
XM_017029621.1 513 Missense Mutation CAT,CGT H113R XP_016885110.1
XM_017029622.1 513 Intron XP_016885111.1
XM_017029623.1 513 Missense Mutation CAT,CGT H113R XP_016885112.1
XM_017029624.1 513 Missense Mutation CAT,CGT H82R XP_016885113.1
XM_017029625.1 513 Missense Mutation CAT,CGT H113R XP_016885114.1
XM_017029626.1 513 Intron XP_016885115.1
XM_017029627.1 513 Intron XP_016885116.1

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