Product Details

SNP ID
rs187742957
Assay Type
Functionally tested
NCBI dbSNP Submissions
21
Location
Chr.1:162854772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGGCTATGTTAAACGGTTAGAGA[A/G]GAAGAAACTTAGAAGGCACCCTGTT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC190 PubMed Links

Gene Details

Gene
CCDC190
Gene Name
coiled-coil domain containing 190
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178550.4 3695 Missense Mutation CCT,CTT P301L NP_848645.3
XM_005245125.3 3695 Missense Mutation CCT,CTT P312L XP_005245182.1
XM_006711289.3 3695 Missense Mutation CCT,CTT P300L XP_006711352.1
XM_011509477.2 3695 Missense Mutation CCT,CTT P313L XP_011507779.1

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