Product Details

SNP ID
rs117511878
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:34957729 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATAACATATAACTTCTGAAGATA[C/T]GTGTTTTCGCTACAACCCCTTTGTT
Phenotype
MIM: 604889
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NBEA PubMed Links

Gene Details

Gene
NBEA
Gene Name
neurobeachin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204197.1 Intron NP_001191126.1
NM_015678.4 Intron NP_056493.3
XM_005266346.4 Intron XP_005266403.1
XM_005266347.4 Intron XP_005266404.2
XM_005266348.4 Intron XP_005266405.2
XM_006719803.3 Intron XP_006719866.1
XM_006719805.3 Intron XP_006719868.1
XM_006719806.3 Intron XP_006719869.1
XM_011535046.2 Intron XP_011533348.1
XM_011535047.2 Intron XP_011533349.1
XM_017020544.1 Intron XP_016876033.1
XM_017020545.1 Intron XP_016876034.1
XM_017020546.1 Intron XP_016876035.1

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