Product Details

SNP ID
rs34044760
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48433151 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCTGCACGCAGATAGGCTGTGC[A/G]AAGCCTCTTCTCCTCCTGCAGAAGC
Phenotype
MIM: 601053 MIM: 615808
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CCDC51 PubMed Links

Gene Details

Gene
CCDC51
Gene Name
coiled-coil domain containing 51
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256964.1 960 Missense Mutation CGC,TGC R165C NP_001243893.1
NM_001256965.2 960 Missense Mutation CGC,TGC R56C NP_001243894.1
NM_001256966.2 960 Missense Mutation CGC,TGC R56C NP_001243895.1
NM_001256967.2 960 Missense Mutation CGC,TGC R56C NP_001243896.1
NM_001256968.2 960 Missense Mutation CGC,TGC R56C NP_001243897.1
NM_001256969.2 960 Missense Mutation CGC,TGC R56C NP_001243898.1
NM_024661.4 960 Missense Mutation CGC,TGC R165C NP_078937.3
XM_011534113.2 960 Missense Mutation CGC,TGC R185C XP_011532415.1
Gene
PLXNB1
Gene Name
plexin B1
There are no transcripts associated with this gene.

Gene
TMA7
Gene Name
translation machinery associated 7 homolog
There are no transcripts associated with this gene.

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