Product Details

SNP ID

rs112310043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58997670 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCCAGAGAGGGAGCCGTAGTCTC[C/T]CACCCTCCAGAGGGTGTAGTTCCGG

Phenotype

MIM: 603169 MIM: 605297

Polymorphism

C/T, Transition 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	697	Missense Mutation	AGA,GGA	R191G	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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