Product Details

SNP ID
rs148370247
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:56451380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCTTGAGGACAGACAGTCTCTCA[A/G]AAATACTCTTGAGCCGGGGGAAGAG
Phenotype
MIM: 154050 MIM: 603887
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MIP PubMed Links

Gene Details

Gene
MIP
Gene Name
major intrinsic protein of lens fiber
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012064.3 471 Missense Mutation TCT,TTT S231F NP_036196.1
XM_011538354.1 471 Missense Mutation TCT,TTT S136F XP_011536656.1
XM_017019306.1 471 Missense Mutation TCT,TTT S112F XP_016874795.1
Gene
TIMELESS
Gene Name
timeless circadian clock
There are no transcripts associated with this gene.

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