Product Details

SNP ID

rs142760907

Assay Type

Functionally Tested

NCBI dbSNP Submissions

6

Location

Chr.1:74706958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCGACTCCTTTGCCATGGTGTCTC[A/G]TGGGTTTATTTCAATAGTACCTCTG

Phenotype

MIM: 123691

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CRYZ PubMed Links

Additional Information

For this assay, SNP(s) [rs17552114] 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

CRYZ

Gene Name

crystallin zeta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130042.1	758	Nonsense Mutation	CGA,TGA	R257*	NP_001123514.1
NM_001130043.1	758	Nonsense Mutation	CGA,TGA	R223*	NP_001123515.1
NM_001134759.1	758	Nonsense Mutation	CGA,TGA	R120*	NP_001128231.1
NM_001889.3	758	Nonsense Mutation	CGA,TGA	R257*	NP_001880.2
XM_005270491.4	758	Nonsense Mutation	CGA,TGA	R120*	XP_005270548.1
XM_011540747.1	758	Nonsense Mutation	CGA,TGA	R257*	XP_011539049.1
XM_017000367.1	758	Nonsense Mutation	CGA,TGA	R223*	XP_016855856.1
XM_017000368.1	758	Nonsense Mutation	CGA,TGA	R120*	XP_016855857.1

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