Product Details

SNP ID
rs187810520
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:116325309 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTTAATTTTTATTACAGTAAGGT[C/T]GGAAATAACCAGATGTCGTGAAAAA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC172 PubMed Links

Gene Details

Gene
CCDC172
Gene Name
coiled-coil domain containing 172
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198515.2 665 Missense Mutation TCG,TTG S29L NP_940917.1
XM_006717820.3 665 Missense Mutation TCG,TTG S29L XP_006717883.1
XM_011539771.2 665 Missense Mutation TCG,TTG S29L XP_011538073.1
XM_017016206.1 665 Missense Mutation TCG,TTG S29L XP_016871695.1

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