Product Details

SNP ID
rs146043252
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:68711019 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCATAATTTTTGCAACCAATGC[A/G]TTTGCAAATAGAAGAACACATAATT
Phenotype
MIM: 604374
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TESMIN PubMed Links

Gene Details

Gene
TESMIN
Gene Name
testis expressed metallothionein like protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039656.1 1175 Intron NP_001034745.1
NM_004923.3 1175 Missense Mutation CGC,TGC R397C NP_004914.2
XM_011545402.1 1175 Missense Mutation CGC,TGC R397C XP_011543704.1
XM_011545403.2 1175 Missense Mutation CGC,TGC R397C XP_011543705.1
XM_017018588.1 1175 Missense Mutation CGC,TGC R331C XP_016874077.1

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