Product Details

SNP ID
rs191940699
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:75620322 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAATTATGCTTCCTCAGATGAACC[G/T]CACAGCCCTGCATTTTGCAGTGGGG
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ANKDD1B PubMed Links

Gene Details

Gene
ANKDD1B
Gene Name
ankyrin repeat and death domain containing 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001276713.1 651 Missense Mutation CGC,CTC R102L NP_001263642.1
XM_011543618.2 651 Missense Mutation CGC,CTC R102L XP_011541920.1
XM_011543623.2 651 Intron XP_011541925.1
XM_017009814.1 651 Missense Mutation CGC,CTC R102L XP_016865303.1
XM_017009815.1 651 Missense Mutation CGC,CTC R102L XP_016865304.1
XM_017009816.1 651 Missense Mutation CGC,CTC R102L XP_016865305.1
XM_017009817.1 651 Missense Mutation CGC,CTC R102L XP_016865306.1

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