Product Details

SNP ID

rs143968577

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:10058870 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGTCCTCAGCGGCAGTACTCCC[C/G]CTCGATGCTCGCCATCAGCCCCTCT

Phenotype

MIM: 603301

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CYS1 PubMed Links

Gene Details

Gene

CYS1

Gene Name

cystin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037160.2	648	Missense Mutation	CGG,GGG	R154G	NP_001032237.1

Gene

KLF11

Gene Name

Kruppel like factor 11

There are no transcripts associated with this gene.

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