Product Details

SNP ID
rs201260975
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:119186493 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACCCTCCAGATCCCTGGAGCCTG[A/G]AGCGGCCTCGCTTCTGTTTACTGAG
Phenotype
MIM: 611947 MIM: 607146
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC153 PubMed Links

Gene Details

Gene
CCDC153
Gene Name
coiled-coil domain containing 153
There are no transcripts associated with this gene.

Gene
NLRX1
Gene Name
NLR family member X1
There are no transcripts associated with this gene.

Gene
PDZD3
Gene Name
PDZ domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168468.1 171 Missense Mutation AAG,GAG K45E NP_001161940.1
NM_024791.3 171 Missense Mutation AAG,GAG K45E NP_079067.3
XM_011543000.2 171 Missense Mutation AAG,GAG K111E XP_011541302.1
XM_011543001.2 171 Missense Mutation AAG,GAG K111E XP_011541303.1
XM_011543002.2 171 Missense Mutation AAG,GAG K111E XP_011541304.1
XM_011543005.2 171 Missense Mutation AAG,GAG K46E XP_011541307.1
XM_017018334.1 171 Missense Mutation AAG,GAG K111E XP_016873823.1
XM_017018335.1 171 Missense Mutation AAG,GAG K111E XP_016873824.1
XM_017018336.1 171 Missense Mutation AAG,GAG K111E XP_016873825.1
XM_017018337.1 171 Missense Mutation AAG,GAG K111E XP_016873826.1

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