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ACGTCAGCGAGTGCATGTACTGCTC[C/T]GTGTTGATGATGCGGATCTCACGCT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 608560 | |||||||||||||||||||||||
Literature Links: |
NT5DC2 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
NT5DC2 - 5'-nucleotidase domain containing 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134231.1 | 1404 | Silent Mutation | ACA,ACG | T,T 428 | NP_001127703.1 | |
NM_022908.2 | 1404 | Silent Mutation | ACA,ACG | T,T 391 | NP_075059.1 | |
XM_005265406.2 | 1404 | Silent Mutation | ACA,ACG | T,T 261 | XP_005265463.1 | |
XM_006713303.3 | 1404 | Silent Mutation | ACA,ACG | T,T 428 | XP_006713366.1 | |
XM_006713305.2 | 1404 | Silent Mutation | ACA,ACG | T,T 261 | XP_006713368.1 |
STAB1 - stabilin 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015136.2 | 1404 | Intron | NP_055951.2 | |||
XM_005264973.3 | 1404 | Intron | XP_005265030.1 | |||
XM_005264974.2 | 1404 | Intron | XP_005265031.1 | |||
XM_006713065.1 | 1404 | Intron | XP_006713128.1 | |||
XM_017005998.1 | 1404 | Intron | XP_016861487.1 | |||
XM_017005999.1 | 1404 | Intron | XP_016861488.1 | |||
XM_017006000.1 | 1404 | Intron | XP_016861489.1 | |||
XM_017006001.1 | 1404 | Intron | XP_016861490.1 | |||
XM_017006002.1 | 1404 | Intron | XP_016861491.1 | |||
XM_017006003.1 | 1404 | Intron | XP_016861492.1 | |||
XM_017006004.1 | 1404 | Intron | XP_016861493.1 |