Product Details

SNP ID

rs6137954

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23452601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTCACCTGCCTCTGGACTTTAA[A/G]GACTCGGAAGATCCTGAAGTGGTAC

Phenotype

MIM: 609731

Polymorphism

A/G, 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	245	Missense Mutation	CTT,TTT	L71F	NP_543020.2
NM_130794.1	245	Missense Mutation	CTT,TTT	L71F	NP_570612.1

Gene

CSTL1

Gene Name

cystatin like 1

There are no transcripts associated with this gene.

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