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SNP ID

rs141912408

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58996790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGTTAGCCAGTCTTTCTGTTGCC[A/G]TTATTCCACAGCTGAGAGCAAGCAG

Phenotype

MIM: 603169 MIM: 605297

Polymorphism

A/G, 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	776	Missense Mutation	ACG,ATG	T217M	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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