Product Details

SNP ID
rs199809614
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50662031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCGGTGGCCCACCCTGGTCACACC[C/T]AGATCGACGTAGTCCTCCTTGGTCA
Phenotype
MIM: 604999 MIM: 600327
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C19orf81 PubMed Links

Gene Details

Gene
C19orf81
Gene Name
chromosome 19 open reading frame 81
There are no transcripts associated with this gene.

Gene
SHANK1
Gene Name
SH3 and multiple ankyrin repeat domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016148.3 6439 Silent Mutation CTA,CTG L2140L NP_057232.2
XM_006723233.3 6439 Silent Mutation CTA,CTG L2140L XP_006723296.1
XM_011527013.2 6439 Silent Mutation CTA,CTG L2148L XP_011525315.1
XM_011527014.2 6439 Silent Mutation CTA,CTG L2131L XP_011525316.1
Gene
SYT3
Gene Name
synaptotagmin 3
There are no transcripts associated with this gene.

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