Product Details

SNP ID
rs149731074
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:74696574 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTCCAGGGTCTGGGCTAGGAAGA[C/T]GTTCCAGTGACCTGCATGGAGGAGG
Phenotype
MIM: 613127
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHRDL2 PubMed Links

Gene Details

Gene
CHRDL2
Gene Name
chordin like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278473.2 1419 Missense Mutation ATC,GTC I409V NP_001265402.1
NM_001304390.1 1419 Missense Mutation CAT,CGT H407R NP_001291319.1
NM_001304391.1 1419 Missense Mutation CAT,CGT H342R NP_001291320.1
NM_001304415.1 1419 Missense Mutation ATC,GTC I324V NP_001291344.1
NM_001304416.1 1419 Missense Mutation ATC,GTC I293V NP_001291345.1
NM_001304417.1 1419 Missense Mutation CAT,CGT H362R NP_001291346.1
NM_015424.5 1419 Missense Mutation CAT,CGT H427R NP_056239.3

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