Product Details

SNP ID

rs148291504

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56450119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCATTTGAATAGAAGGAATCAATT[C/T]CTGGGGTATGAGGGAGTTAGAAGAG

Phenotype

MIM: 154050 MIM: 603887

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MIP PubMed Links

Additional Information

For this assay, SNP(s) [rs111463603] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1732	UTR 3			NP_036196.1
XM_011538354.1	1732	UTR 3			XP_011536656.1
XM_017019306.1	1732	UTR 3			XP_016874795.1

Gene

TIMELESS

Gene Name

timeless circadian clock

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011538939.2	1732	Intron			XP_011537241.1

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