Product Details

SNP ID
rs139168338
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52524650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTAGAGGTCAGAGAAGCGCACGAG[C/G]CGCCTTGAGAAGTAGGTGGGGTTGT
Phenotype
MIM: 608560
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
NT5DC2 PubMed Links

Gene Details

Gene
NT5DC2
Gene Name
5'-nucleotidase domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134231.1 1614 Silent Mutation CGC,CGG R498R NP_001127703.1
NM_022908.2 1614 Silent Mutation CGC,CGG R461R NP_075059.1
XM_005265406.2 1614 Silent Mutation CGC,CGG R331R XP_005265463.1
XM_006713303.3 1614 Intron XP_006713366.1
XM_006713305.2 1614 Silent Mutation CGC,CGG R331R XP_006713368.1
Gene
STAB1
Gene Name
stabilin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015136.2 1614 Intron NP_055951.2
XM_005264973.3 1614 Intron XP_005265030.1
XM_005264974.2 1614 Intron XP_005265031.1
XM_006713065.1 1614 Intron XP_006713128.1
XM_017005998.1 1614 Intron XP_016861487.1
XM_017005999.1 1614 Intron XP_016861488.1
XM_017006000.1 1614 Intron XP_016861489.1
XM_017006001.1 1614 Intron XP_016861490.1
XM_017006002.1 1614 Intron XP_016861491.1
XM_017006003.1 1614 Intron XP_016861492.1
XM_017006004.1 1614 Intron XP_016861493.1

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