Product Details

SNP ID
rs148682647
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30001002 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCCTCCTTCAACAGGGTTTCCC[C/T]TTCAGGCCTCCGGGGTCCCCTCCCC
Phenotype
MIM: 604567 MIM: 603365 MIM: 613199
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DOC2A PubMed Links

Gene Details

Gene
DOC2A
Gene Name
double C2 domain alpha
There are no transcripts associated with this gene.

Gene
HIRIP3
Gene Name
HIRA interacting protein 3
There are no transcripts associated with this gene.

Gene
INO80E
Gene Name
INO80 complex subunit E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304562.1 444 Missense Mutation CTT,TTT L120F NP_001291491.1
NM_001304563.1 444 Missense Mutation CTT,TTT L120F NP_001291492.1
NM_173618.2 444 Missense Mutation CTT,TTT L120F NP_775889.1
XM_011545809.2 444 Missense Mutation CTT,TTT L120F XP_011544111.1
XM_011545811.2 444 Missense Mutation CTT,TTT L120F XP_011544113.1
XM_011545812.2 444 Missense Mutation CTT,TTT L120F XP_011544114.1
XM_017023169.1 444 Missense Mutation CTT,TTT L120F XP_016878658.1
Gene
TAOK2
Gene Name
TAO kinase 2
There are no transcripts associated with this gene.

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