Product Details

SNP ID
rs45578438
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:14772176 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAGTCTTTTTGGCACACGGACTA[C/T]TGAAAATTCACAGTGTACAAAAGTT
Phenotype
MIM: 616565
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANKRD30B PubMed Links

Gene Details

Gene
ANKRD30B
Gene Name
ankyrin repeat domain 30B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145029.1 1362 Missense Mutation ACT,ATT T426I NP_001138501.1
XM_006722325.3 1362 Intron XP_006722388.1
XM_011525662.2 1362 Missense Mutation ACT,ATT T426I XP_011523964.1
XM_011525664.2 1362 Intron XP_011523966.1
XM_011525665.2 1362 Missense Mutation ACT,ATT T426I XP_011523967.1
XM_011525666.2 1362 Missense Mutation ACT,ATT T426I XP_011523968.1

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