Product Details

SNP ID
rs199941205
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17306548 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTTTTCTCAACTTCTCAGGAGAA[C/G]GCCATCAGCATTTGGGAGTCAAAGA
Phenotype
MIM: 605292
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NT5M PubMed Links

Gene Details

Gene
NT5M
Gene Name
5',3'-nucleotidase, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020201.3 458 Missense Mutation AAC,AAG N91K NP_064586.1
XM_005256731.3 458 Missense Mutation AAC,AAG N91K XP_005256788.1
XM_005256732.3 458 Missense Mutation AAC,AAG N91K XP_005256789.1
XM_005256733.3 458 Missense Mutation AAC,AAG N91K XP_005256790.1
XM_005256734.3 458 Missense Mutation AAC,AAG N91K XP_005256791.1
XM_005256737.1 458 UTR 5 XP_005256794.1
XM_011523962.2 458 Missense Mutation AAC,AAG N91K XP_011522264.1
XM_011523963.1 458 UTR 5 XP_011522265.1
XM_011523964.2 458 UTR 5 XP_011522266.1
XM_011523965.2 458 UTR 5 XP_011522267.1
XM_011523966.1 458 Missense Mutation AAC,AAG N91K XP_011522268.1
XM_011523967.2 458 Missense Mutation AAC,AAG N91K XP_011522269.1
XM_017024879.1 458 UTR 5 XP_016880368.1

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