Product Details

SNP ID
rs146690743
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52525003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCCCGTGAGCGCCTGCTGCCAC[A/G]TCAGCGAGTGCATGTACTGCTCCGT
Phenotype
MIM: 608560
Polymorphism
A/G, Transition 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 1427 Missense Mutation ACG,ATG T436M NP_001127703.1
NM_022908.2 1427 Missense Mutation ACG,ATG T399M NP_075059.1
XM_005265406.2 1427 Missense Mutation ACG,ATG T269M XP_005265463.1
XM_006713303.3 1427 Missense Mutation ACG,ATG T436M XP_006713366.1
XM_006713305.2 1427 Missense Mutation ACG,ATG T269M 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 1427 Intron NP_055951.2
XM_005264973.3 1427 Intron XP_005265030.1
XM_005264974.2 1427 Intron XP_005265031.1
XM_006713065.1 1427 Intron XP_006713128.1
XM_017005998.1 1427 Intron XP_016861487.1
XM_017005999.1 1427 Intron XP_016861488.1
XM_017006000.1 1427 Intron XP_016861489.1
XM_017006001.1 1427 Intron XP_016861490.1
XM_017006002.1 1427 Intron XP_016861491.1
XM_017006003.1 1427 Intron XP_016861492.1
XM_017006004.1 1427 Intron XP_016861493.1

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