Product Details

SNP ID
rs202045208
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:153948329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTAGAGAAACCTGGAGAGGAGTCC[C/T]CTGTGGGTAGAAGAGACAGGTGAGG
Phenotype
MIM: 608972
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CRTC2 PubMed Links

Gene Details

Gene
CRTC2
Gene Name
CREB regulated transcription coactivator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181715.2 2021 Missense Mutation GAG,GGG E621G NP_859066.1
XM_005244946.1 2021 Missense Mutation GAG,GGG E626G XP_005245003.1
XM_005244949.2 2021 Missense Mutation GAG,GGG E513G XP_005245006.1
XM_017000575.1 2021 Missense Mutation GAG,GGG E548G XP_016856064.1
XM_017000576.1 2021 Missense Mutation GAG,GGG E543G XP_016856065.1
XM_017000577.1 2021 Missense Mutation GAG,GGG E525G XP_016856066.1
XM_017000578.1 2021 Missense Mutation GAG,GGG E520G XP_016856067.1
XM_017000579.1 2021 Missense Mutation GAG,GGG E415G XP_016856068.1
Gene
DENND4B
Gene Name
DENN domain containing 4B
There are no transcripts associated with this gene.

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