Product Details

SNP ID
rs144390908
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:19009275 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCACGTAGGAGAACGACTGTCCA[A/T]TCCCGGGACAAGCAAAGCGGAACTT
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
TMC7 PubMed Links

Gene Details

Gene
TMC7
Gene Name
transmembrane channel like 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160364.2 399 UTR 5 NP_001153836.1
NM_001300732.1 399 Missense Mutation CAA,CAT Q57H NP_001287661.1
NM_001324263.1 399 UTR 5 NP_001311192.1
NM_001324265.1 399 Missense Mutation CAA,CAT Q57H NP_001311194.1
NM_001324268.1 399 UTR 5 NP_001311197.1
NM_024847.4 399 Missense Mutation CAA,CAT Q57H NP_079123.3

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