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SNP ID: rs74378191
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:18555364 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAAATGGAAGTCTGGGCACCTTCTA[C/T]TGGAGTTTTGAAAAAAGCCCATGAC
Phenotype: MIM: 610526 MIM: 616796
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: NT5C1B PubMed Links

Gene Details

Gene: NT5C1B
Gene Name: 5'-nucleotidase, cytosolic IB

There are no transcripts associated with this gene.

Gene: NT5C1B-RDH14
Gene Name: NT5C1B-RDH14 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199103.1	959	Missense Mutation	ATA,GTA	I594V	NP_001186032.1
NM_001199104.1	959	UTR 3			NP_001186033.1

Gene: RDH14
Gene Name: retinol dehydrogenase 14 (all-trans/9-cis/11-cis)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020905.3	959	Missense Mutation	ATA,GTA	I280V	NP_065956.1

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