Product Details

SNP ID
rs181701851
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:62187574 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAATCCATTTCTCAGTGATTCGGA[A/T]GAGGACGATGACGAGGTAGCTGCAA
Phenotype
MIM: 606097
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
KIAA1468 PubMed Links

Gene Details

Gene
KIAA1468
Gene Name
KIAA1468
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020854.3 331 Missense Mutation GAA,GAT E23D NP_065905.2
XM_005266730.2 331 Missense Mutation GAA,GAT E23D XP_005266787.1
XM_011526110.1 331 Missense Mutation GAA,GAT E23D XP_011524412.1
XM_011526111.1 331 Missense Mutation GAA,GAT E23D XP_011524413.1
XM_011526112.1 331 Missense Mutation GAA,GAT E23D XP_011524414.1
XM_011526114.1 331 Missense Mutation GAA,GAT E23D XP_011524416.1
XM_011526117.2 331 Intron XP_011524419.1
XM_017025882.1 331 Missense Mutation GAA,GAT E23D XP_016881371.1
XM_017025883.1 331 Missense Mutation GAA,GAT E23D XP_016881372.1
Gene
PIGN
Gene Name
phosphatidylinositol glycan anchor biosynthesis class N
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012327.5 331 Intron NP_036459.1
NM_176787.4 331 Intron NP_789744.1
XM_011525889.1 331 Intron XP_011524191.1
XM_011525890.1 331 Intron XP_011524192.1
XM_011525891.1 331 Intron XP_011524193.1
XM_011525892.1 331 Intron XP_011524194.1
XM_011525893.1 331 Intron XP_011524195.1
XM_011525894.1 331 Intron XP_011524196.1
XM_011525895.1 331 Intron XP_011524197.1
XM_011525896.1 331 Intron XP_011524198.1
XM_011525898.1 331 Intron XP_011524200.1
XM_017025685.1 331 Intron XP_016881174.1
XM_017025686.1 331 Intron XP_016881175.1

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