Product Details
- SNP ID
-
rs147352597
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:127886700 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGCGGTGGTGGTTGCCCTTGCGAC[C/T]GTGCTCATTCTGGATGTAGGTGACA
- Phenotype
-
MIM: 103000
MIM: 610135
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
AK1
PubMed Links
Gene Details
- Gene
- AK1
- Gene Name
- adenylate kinase 1
- Gene
- ST6GALNAC6
- Gene Name
- ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001286999.1 |
1152 |
Silent Mutation |
ACA,ACG |
T299T |
NP_001273928.1 |
NM_001287000.1 |
1152 |
Missense Mutation |
AGT,GGT |
S267G |
NP_001273929.1 |
NM_001287001.1 |
1152 |
Missense Mutation |
AGT,GGT |
S267G |
NP_001273930.1 |
NM_001287002.1 |
1152 |
Missense Mutation |
AGT,GGT |
S267G |
NP_001273931.1 |
NM_001287003.1 |
1152 |
UTR 3 |
|
|
NP_001273932.1 |
NM_013443.4 |
1152 |
Missense Mutation |
AGT,GGT |
S301G |
NP_038471.2 |
XM_011518610.2 |
1152 |
Missense Mutation |
AGT,GGT |
S301G |
XP_011516912.1 |
XM_011518611.2 |
1152 |
Missense Mutation |
AGT,GGT |
S267G |
XP_011516913.1 |
XM_017014658.1 |
1152 |
Silent Mutation |
ACA,ACG |
T324T |
XP_016870147.1 |
XM_017014659.1 |
1152 |
Silent Mutation |
ACA,ACG |
T299T |
XP_016870148.1 |
XM_017014660.1 |
1152 |
Missense Mutation |
AGT,GGT |
S326G |
XP_016870149.1 |
XM_017014661.1 |
1152 |
Silent Mutation |
ACA,ACG |
T265T |
XP_016870150.1 |
XM_017014662.1 |
1152 |
Silent Mutation |
ACA,ACG |
T265T |
XP_016870151.1 |
XM_017014663.1 |
1152 |
Silent Mutation |
ACA,ACG |
T265T |
XP_016870152.1 |
XM_017014664.1 |
1152 |
Silent Mutation |
ACA,ACG |
T265T |
XP_016870153.1 |
XM_017014665.1 |
1152 |
Missense Mutation |
AGT,GGT |
S267G |
XP_016870154.1 |
XM_017014666.1 |
1152 |
Missense Mutation |
AGT,GGT |
S267G |
XP_016870155.1 |
XM_017014667.1 |
1152 |
Missense Mutation |
AGT,GGT |
S267G |
XP_016870156.1 |
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