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SNP ID: rs79501117
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:18563821 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTAACTACTGAATTTTTTATTAAAG[A/C]CATAAGCTGCGATGGAACCTAACCT
Phenotype: MIM: 610526 MIM: 616796
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: NT5C1B PubMed Links

Gene Details

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002006.2	1869	Missense Mutation	GGC,GTC	G603V	NP_001002006.1
NM_001199086.1	1869	Missense Mutation	GGC,GTC	G586V	NP_001186015.1
NM_001199087.1	1869	Missense Mutation	GGC,GTC	G620V	NP_001186016.1
NM_001199088.1	1869	Missense Mutation	GGC,GTC	G605V	NP_001186017.1
NM_033253.3	1869	Missense Mutation	GGC,GTC	G543V	NP_150278.2

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199103.1	1869	Intron			NP_001186032.1
NM_001199104.1	1869	Intron			NP_001186033.1

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

There are no transcripts associated with this gene.

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