Product Details

SNP ID
rs596963
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:37862240 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCATCACCCAGGTGACCAACCCCA[A/C]GGAGGACGAGGGCCGGTTGCCGGGC
Phenotype
MIM: 608592
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CTDSPL PubMed Links

Gene Details

Gene
CTDSPL
Gene Name
CTD small phosphatase like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008392.1 89 Missense Mutation AAG,ACG K14T NP_001008393.1
NM_005808.2 89 Missense Mutation AAG,ACG K14T NP_005799.2
XM_017005519.1 89 Missense Mutation AAG,ACG K14T XP_016861008.1
XM_017005520.1 89 Intron XP_016861009.1
Gene
ITGA9-AS1
Gene Name
ITGA9 antisense RNA 1
There are no transcripts associated with this gene.

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