Product Details

SNP ID
rs147084360
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:49062510 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCCCCCCAGGTGAAGTCAGAGC[A/G]TCTGCGGGGGCTGCTTGACCGGCAG
Phenotype
MIM: 300947 MIM: 300840
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC120 PubMed Links

Gene Details

Gene
CCDC120
Gene Name
coiled-coil domain containing 120
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163321.2 410 Missense Mutation CAT,CGT H66R NP_001156793.2
NM_001163322.2 410 Missense Mutation CAT,CGT H19R NP_001156794.1
NM_001163323.2 410 Missense Mutation CAT,CGT H19R NP_001156795.1
NM_001271835.1 410 Missense Mutation CAT,CGT H31R NP_001258764.1
NM_001271836.1 410 Missense Mutation CAT,CGT H31R NP_001258765.1
NM_033626.3 410 Missense Mutation CAT,CGT H31R NP_296375.1
Gene
PRAF2
Gene Name
PRA1 domain family member 2
There are no transcripts associated with this gene.

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