Product Details

SNP ID

rs191500425

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:122325310 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCAAAATGATACCTGGAGGCTT[A/C]TCTGAGGCCAAACCCGCCACTCCAG

Phenotype

MIM: 184600

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CSTA PubMed Links

Gene Details

Gene

CSTA

Gene Name

cystatin A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005213.3	147	Missense Mutation	TTA,TTC	L6F	NP_005204.1

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