Product Details

SNP ID
rs200198906
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:42658480 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAAATTCAAGTCCTGTTAACCCC[A/G]TGGTGTTCTTTGATGTCAGTATTGG
Phenotype
MIM: 606095
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CCDC30 PubMed Links

Gene Details

Gene
CCDC30
Gene Name
coiled-coil domain containing 30
There are no transcripts associated with this gene.

Gene
PPIH
Gene Name
peptidylprolyl isomerase H
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006347.3 711 Intron NP_006338.1
XM_005270362.1 711 Missense Mutation ATG,GTG M12V XP_005270419.1
XM_005270366.3 711 Missense Mutation ATG,GTG M12V XP_005270423.1
XM_011540508.1 711 Intron XP_011538810.1
XM_017000057.1 711 Missense Mutation ATG,GTG M12V XP_016855546.1
XM_017000058.1 711 UTR 5 XP_016855547.1
XM_017000059.1 711 UTR 5 XP_016855548.1

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