Product Details

SNP ID
rs201014887
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96761977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCATTAGCAAGCTCCTGGACTT[G/T]TTTCTGGGCCAGGAGATTCGCACTG
Phenotype
MIM: 607805
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CNNM4 PubMed Links

Gene Details

Gene
CNNM4
Gene Name
cyclin and CBS domain divalent metal cation transport mediator 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020184.3 993 Missense Mutation TTG,TTT L326F NP_064569.3
XM_005263914.3 993 Missense Mutation TTG,TTT L326F XP_005263971.1
XM_005263915.3 993 Missense Mutation TTG,TTT L326F XP_005263972.1
XM_011510955.2 993 Missense Mutation TTG,TTT L326F XP_011509257.1
XM_011510956.2 993 Missense Mutation TTG,TTT L326F XP_011509258.1
XM_017003799.1 993 Intron XP_016859288.1

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