Product Details

SNP ID
rs140707872
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:7926774 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAATCTCAGGCTTATGCACAAGA[A/T]GGAAGAGCACTGTTAAAATTAAAAA
Phenotype
MIM: 600135 MIM: 605076 MIM: 605058
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CTXN1 PubMed Links

Gene Details

Gene
CTXN1
Gene Name
cortexin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_206833.3 1944 Intron NP_996664.1
Gene
SNAPC2
Gene Name
small nuclear RNA activating complex polypeptide 2
There are no transcripts associated with this gene.

Gene
TGFBR3L
Gene Name
transforming growth factor beta receptor 3 like
There are no transcripts associated with this gene.

Gene
TIMM44
Gene Name
translocase of inner mitochondrial membrane 44
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006351.3 1944 UTR 3 NP_006342.2

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