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SNP ID

rs200241491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58997639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTGCATAGATTTCTGCCATCATC[A/T]TCTCCCTCCCAGAGAGGGAGCCGTA

Phenotype

MIM: 603169 MIM: 605297

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CTSZ PubMed Links

Gene Details

Gene

CTSZ

Gene Name

cathepsin Z

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001336.3	728	Missense Mutation	AAG,ATG	K201M	NP_001327.2

Gene

NELFCD

Gene Name

negative elongation factor complex member C/D

There are no transcripts associated with this gene.

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