Product Details

SNP ID

rs142033729

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17306639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGTCAAGGAGATGGCCAGCCTA[C/G]AAAAGTAAGTTTGTCCTCCCAGCCA

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	549	Missense Mutation	CAA,GAA	Q122E	NP_064586.1
XM_005256731.3	549	Missense Mutation	CAA,GAA	Q122E	XP_005256788.1
XM_005256732.3	549	Missense Mutation	CAA,GAA	Q122E	XP_005256789.1
XM_005256733.3	549	Missense Mutation	CAA,GAA	Q122E	XP_005256790.1
XM_005256734.3	549	Missense Mutation	CAA,GAA	Q122E	XP_005256791.1
XM_005256737.1	549	Missense Mutation	CAA,GAA	Q5E	XP_005256794.1
XM_011523962.2	549	Missense Mutation	CAA,GAA	Q122E	XP_011522264.1
XM_011523963.1	549	Missense Mutation	CAA,GAA	Q5E	XP_011522265.1
XM_011523964.2	549	Missense Mutation	CAA,GAA	Q5E	XP_011522266.1
XM_011523965.2	549	Missense Mutation	CAA,GAA	Q5E	XP_011522267.1
XM_011523966.1	549	Missense Mutation	CAA,GAA	Q122E	XP_011522268.1
XM_011523967.2	549	Missense Mutation	CAA,GAA	Q122E	XP_011522269.1
XM_017024879.1	549	Missense Mutation	CAA,GAA	Q5E	XP_016880368.1

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