Product Details

SNP ID

rs143205954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23451842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGAAGCTCCCTTTCCTGGGGGA[C/T]ACAGTTCGTGGTCTCTGGCTTTTGG

Phenotype

MIM: 609731

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CST11 PubMed Links

Gene Details

Gene

CST11

Gene Name

cystatin 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080830.2	341	Intron			NP_543020.2
NM_130794.1	341	Missense Mutation	ATC,GTC	I103V	NP_570612.1

Gene

CSTL1

Gene Name

cystatin like 1

There are no transcripts associated with this gene.

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