Product Details

SNP ID
rs192803282
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144012609 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGAAGAAGTTGGTGCGGCTCATT[C/T]GGGAGAATCACGAGCTCAAGTCAGC
Phenotype
MIM: 610874
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPATC1 PubMed Links

Gene Details

Gene
SPATC1
Gene Name
spermatogenesis and centriole associated 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134374.1 196 Missense Mutation CGG,TGG R32W NP_001127846.1
NM_198572.2 196 Missense Mutation CGG,TGG R32W NP_940974.2
XM_011517021.1 196 Missense Mutation CGG,TGG R32W XP_011515323.1
XM_011517022.2 196 Intron XP_011515324.1
XM_011517023.2 196 Intron XP_011515325.1
XM_011517024.2 196 Intron XP_011515326.1
XM_011517025.2 196 Intron XP_011515327.1
XM_017013399.1 196 Intron XP_016868888.1

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