Product Details

SNP ID
rs193921115
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:48727942 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCATTTTTACAGGATTTATTGA[T/C]ATCCATGATTTTTTCACAGATGTAC
Phenotype
MIM: 616476
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
AGBL4 PubMed Links

Gene Details

Gene
AGBL4
Gene Name
ATP/GTP binding protein like 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323573.1 1477 Intron NP_001310502.1
NM_001323574.1 1477 Intron NP_001310503.1
NM_001323575.1 1477 Intron NP_001310504.1
NM_032785.3 1477 Intron NP_116174.3
XM_011542308.2 1477 Intron XP_011540610.1
XM_011542310.2 1477 Intron XP_011540612.1
XM_017002595.1 1477 Intron XP_016858084.1
XM_017002596.1 1477 Intron XP_016858085.1
XM_017002597.1 1477 Intron XP_016858086.1
XM_017002598.1 1477 Intron XP_016858087.1
Gene
BEND5
Gene Name
BEN domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302082.1 1477 Missense Mutation ATC,GTC I235V NP_001289011.1
NM_024603.3 1477 Missense Mutation ATC,GTC I404V NP_078879.2
XM_011542141.2 1477 Missense Mutation ATC,GTC I319V XP_011540443.1
XM_011542142.2 1477 Missense Mutation ATC,GTC I235V XP_011540444.1
XM_017002331.1 1477 Missense Mutation ATC,GTC I350V XP_016857820.1
XM_017002332.1 1477 Missense Mutation ATC,GTC I319V XP_016857821.1
XM_017002333.1 1477 Intron XP_016857822.1
XM_017002334.1 1477 Missense Mutation ATC,GTC I235V XP_016857823.1

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