Product Details

SNP ID
rs12457503
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:14752958 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTATGCCGTTTATAGTGAGAATTT[A/G]TTAATGGTGGCAACACTGCTGTCCT
Phenotype
MIM: 616565
Polymorphism
A/G, 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_001145029.1 541 Silent Mutation TTA,TTG L152L NP_001138501.1
XM_006722325.3 541 Intron XP_006722388.1
XM_011525662.2 541 Silent Mutation TTA,TTG L152L XP_011523964.1
XM_011525664.2 541 Intron XP_011523966.1
XM_011525665.2 541 Silent Mutation TTA,TTG L152L XP_011523967.1
XM_011525666.2 541 Silent Mutation TTA,TTG L152L XP_011523968.1

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