Product Details

SNP ID
rs113011483
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:101733628 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTGCATATCTAAATCCCACTGCT[A/G]AAACAAAGTCAGAAACTGCTGAGAA
Phenotype
MIM: 616747 MIM: 604759
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHPT1 PubMed Links

Gene Details

Gene
CHPT1
Gene Name
choline phosphotransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020244.2 535 Intron NP_064629.2
XM_011538574.1 535 Intron XP_011536876.1
XM_011538575.1 535 Intron XP_011536877.1
Gene
SYCP3
Gene Name
synaptonemal complex protein 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177948.1 535 Nonsense Mutation CAG,TAG Q134* NP_001171419.1
NM_001177949.1 535 Nonsense Mutation CAG,TAG Q134* NP_001171420.1
NM_153694.4 535 Nonsense Mutation CAG,TAG Q134* NP_710161.1
XM_005268922.4 535 Nonsense Mutation CAG,TAG Q214* XP_005268979.3
XM_005268924.1 535 Nonsense Mutation CAG,TAG Q134* XP_005268981.1
XM_005268925.1 535 Nonsense Mutation CAG,TAG Q134* XP_005268982.1
XM_005268926.3 535 Nonsense Mutation CAG,TAG Q134* XP_005268983.1
XM_005268927.2 535 Nonsense Mutation CAG,TAG Q134* XP_005268984.1
XM_011538421.2 535 Nonsense Mutation CAG,TAG Q188* XP_011536723.2
XM_017019368.1 535 Nonsense Mutation CAG,TAG Q214* XP_016874857.1

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