Product Details

SNP ID
rs79840632
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:200892017 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTCCCTGATCTGCAATTCTTCCC[A/G]TTCCTTCATGGATTTGAAGGCTCTC
Phenotype
MIM: 605778 MIM: 615811
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NIF3L1 PubMed Links

Gene Details

Gene
NIF3L1
Gene Name
NGG1 interacting factor 3 like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136039.2 301 Missense Mutation CAT,CGT H25R NP_001129511.1
NM_001142355.1 301 UTR 5 NP_001135827.1
NM_001142356.1 301 Missense Mutation CAT,CGT H25R NP_001135828.1
NM_021824.3 301 UTR 5 NP_068596.2
XM_005246742.3 301 Missense Mutation CAT,CGT H25R XP_005246799.1
XM_011511582.1 301 Missense Mutation CAT,CGT H25R XP_011509884.1
XM_011511583.1 301 Missense Mutation CAT,CGT H25R XP_011509885.1
XM_011511584.1 301 Missense Mutation CAT,CGT H25R XP_011509886.1
XM_011511585.1 301 UTR 5 XP_011509887.1
XM_017004630.1 301 Missense Mutation CAT,CGT H25R XP_016860119.1
Gene
PPIL3
Gene Name
peptidylprolyl isomerase like 3
There are no transcripts associated with this gene.

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