Product Details

SNP ID
rs199986005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:69406031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGAGGAGCACGTACCGTATTCTA[A/G]TATCTAACAATTCCTTAATCATTGC
Phenotype
MIM: 608100
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NFU1 PubMed Links

Gene Details

Gene
NFU1
Gene Name
NFU1 iron-sulfur cluster scaffold
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002755.2 832 Missense Mutation ACT,ATT T179I NP_001002755.1
NM_001002756.2 832 Missense Mutation ACT,ATT T38I NP_001002756.1
NM_015700.3 832 Missense Mutation ACT,ATT T155I NP_056515.2
XM_017003808.1 832 Intron XP_016859297.1

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