Product Details

SNP ID
rs143450140
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:94491844 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATACCCTGTCCAAATCCTCCCCTG[C/T]CCCTTCCTCTTGGTGGTGGCACAAC
Phenotype
MIM: 616447
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KIAA1429 PubMed Links

Gene Details

Gene
KIAA1429
Gene Name
KIAA1429
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015496.4 4725 Missense Mutation GAC,GGC D1625G NP_056311.2
NM_183009.2 4725 Intron NP_892121.1
XM_017013306.1 4725 Missense Mutation GAC,GGC D1290G XP_016868795.1
XM_017013307.1 4725 Missense Mutation GAC,GGC D1290G XP_016868796.1
XM_017013308.1 4725 Missense Mutation GAC,GGC D1290G XP_016868797.1

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