Product Details

SNP ID
rs148992156
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:20036212 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAAAGATCAGGATTCACTCTCAT[C/T]GACGTCCTCATCTGGATGGTGCTCA
Phenotype
MIM: 610952 MIM: 610833
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CRNKL1 PubMed Links

Gene Details

Gene
CRNKL1
Gene Name
crooked neck pre-mRNA splicing factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278625.1 2562 Missense Mutation AAT,GAT N832D NP_001265554.1
NM_001278626.1 2562 Missense Mutation AAT,GAT N560D NP_001265555.1
NM_001278627.1 2562 Missense Mutation AAT,GAT N560D NP_001265556.1
NM_001278628.1 2562 Missense Mutation AAT,GAT N683D NP_001265557.1
NM_016652.5 2562 Missense Mutation AAT,GAT N844D NP_057736.4
Gene
NAA20
Gene Name
N(alpha)-acetyltransferase 20, NatB catalytic subunit
There are no transcripts associated with this gene.

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