Product Details

SNP ID
rs11762014
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:98223087 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTGCCCACTCCCCTCGGCACCC[A/G]GGCTCTCCGGGATGATGGACACGTC
Phenotype
MIM: 614781
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TECPR1 PubMed Links

Gene Details

Gene
TECPR1
Gene Name
tectonin beta-propeller repeat containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015395.2 3131 Missense Mutation CCG,CTG P944L NP_056210.1
XM_005250253.3 3131 Missense Mutation CCG,CTG P944L XP_005250310.1
XM_017011937.1 3131 Missense Mutation CCG,CTG P910L XP_016867426.1
XM_017011938.1 3131 Intron XP_016867427.1

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