Product Details

SNP ID
rs200366092
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:110676263 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCCTTTTCAGATCTCTCCAGGT[A/G]CAAAACCTTGACTAAATCTTCAAGC
Phenotype
MIM: 300350
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHRDL1 PubMed Links

Gene Details

Gene
CHRDL1
Gene Name
chordin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143981.1 1496 Missense Mutation CAC,TAC H449Y NP_001137453.1
NM_001143982.1 1496 Missense Mutation CAC,TAC H448Y NP_001137454.1
NM_001143983.2 1496 Missense Mutation CAC,TAC H369Y NP_001137455.2
NM_145234.3 1496 Missense Mutation CAC,TAC H447Y NP_660277.2
XM_005262221.1 1496 Missense Mutation CAC,TAC H449Y XP_005262278.1
XM_005262222.3 1496 Missense Mutation CAC,TAC H448Y XP_005262279.1
XM_005262223.1 1496 Missense Mutation CAC,TAC H444Y XP_005262280.1
XM_005262224.1 1496 Missense Mutation CAC,TAC H443Y XP_005262281.1
XM_017029959.1 1496 Missense Mutation CAC,TAC H444Y XP_016885448.1

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