Product Details

SNP ID
rs144253777
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:93755062 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTTTCCAGCAGCCGGAGAAGTGC[G/T]ACAACAACCAGTACTTTGATATCTC
Phenotype
MIM: 609884
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
TMEM67 PubMed Links

Gene Details

Gene
TMEM67
Gene Name
transmembrane protein 67
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142301.1 146 UTR 5 NP_001135773.1
NM_153704.5 146 Missense Mutation GAC,TAC D50Y NP_714915.3
XM_006716686.3 146 UTR 5 XP_006716749.1
XM_011517363.2 146 Missense Mutation GAC,TAC D50Y XP_011515665.1

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