Product Details

SNP ID

rs199938188

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58986159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCAAGAATGCCTGCATAAATTT[G/T]CCACCCGGGATTATATCATGGAACC

Phenotype

MIM: 603169 MIM: 605297

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CTSZ PubMed Links

Gene Details

Gene

CTSZ

Gene Name

cathepsin Z

There are no transcripts associated with this gene.

Gene

NELFCD

Gene Name

negative elongation factor complex member C/D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198976.2	229	Missense Mutation	GCC,TCC	A61S	NP_945327.2

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