Product Details

SNP ID
rs138885744
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41809953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACCTGGCACAGCTGAACGACATC[C/T]ACCAGCAGTACAAGATCCTTGATGT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC134 PubMed Links

Gene Details

Gene
CCDC134
Gene Name
coiled-coil domain containing 134
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304797.1 429 Missense Mutation CAC,TAC H60Y NP_001291726.1
NM_024821.3 429 Missense Mutation CAC,TAC H60Y NP_079097.1
XM_005261748.3 429 Missense Mutation CAC,TAC H60Y XP_005261805.1

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