Product Details

SNP ID
rs199737243
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:114858689 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAGAAAGATAATTGAAGCACAGC[A/G]AAAAGCCATTCAGGAACTGCAAGTA
Phenotype
MIM: 602162
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SYCP1 PubMed Links

Gene Details

Gene
SYCP1
Gene Name
synaptonemal complex protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282541.1 677 Missense Mutation CAA,CGA Q145R NP_001269470.1
NM_001282542.1 677 Missense Mutation CAA,CGA Q145R NP_001269471.1
NM_003176.3 677 Missense Mutation CAA,CGA Q145R NP_003167.2
XM_005271155.3 677 Missense Mutation CAA,CGA Q127R XP_005271212.1
XM_005271156.1 677 Intron XP_005271213.1
XM_006710859.1 677 Missense Mutation CAA,CGA Q145R XP_006710922.1
XM_011542037.2 677 Missense Mutation CAA,CGA Q145R XP_011540339.1
XM_011542038.2 677 Intron XP_011540340.1
XM_011542039.1 677 Missense Mutation CAA,CGA Q145R XP_011540341.1
XM_017002184.1 677 Missense Mutation CAA,CGA Q145R XP_016857673.1
XM_017002185.1 677 Intron XP_016857674.1

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