Product Details

SNP ID
rs147789948
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:43881103 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAATACCACCATGCTGCCAAGGCC[A/G]AGTTTCTCTGTATAATGTGTTGCAG
Phenotype
MIM: 613408 MIM: 613409
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC122 PubMed Links

Gene Details

Gene
CCDC122
Gene Name
coiled-coil domain containing 122
There are no transcripts associated with this gene.

Gene
LACC1
Gene Name
laccase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128303.1 439 Missense Mutation AAG,GAG K40E NP_001121775.1
NM_153218.2 439 Missense Mutation AAG,GAG K40E NP_694950.2
XM_005266261.3 439 Missense Mutation AAG,GAG K40E XP_005266318.1
XM_006719766.3 439 Missense Mutation AAG,GAG K40E XP_006719829.1
XM_006719767.3 439 Missense Mutation AAG,GAG K40E XP_006719830.1
XM_011534933.2 439 Missense Mutation AAG,GAG K40E XP_011533235.1
XM_011534934.2 439 Missense Mutation AAG,GAG K40E XP_011533236.1
XM_011534935.2 439 Missense Mutation AAG,GAG K40E XP_011533237.1
XM_017020394.1 439 Missense Mutation AAG,GAG K40E XP_016875883.1

View Full Product Details