Product Details

SNP ID
rs200106782
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:66137965 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGAGCTGAGATACTTTTAATTACT[C/T]TTTATTAACTGCTTCCAGAAACCGT
Phenotype
MIM: 616998 MIM: 616874
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
LLPH PubMed Links

Gene Details

Gene
LLPH
Gene Name
LLP homolog, long-term synaptic facilitation
There are no transcripts associated with this gene.

Gene
LLPH-AS1
Gene Name
LLPH antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

Gene
TMBIM4
Gene Name
transmembrane BAX inhibitor motif containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282606.1 974 Missense Mutation AAG,GAG K285E NP_001269535.1
NM_001282609.1 974 UTR 3 NP_001269538.1
NM_001282610.1 974 Missense Mutation AAG,GAG K207E NP_001269539.1
NM_016056.3 974 Missense Mutation AAG,GAG K238E NP_057140.2

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