Product Details
- SNP ID
-
rs112556847
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:17161061 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTGCTGGAGGAAGCTGAGGCTGGGC[C/T]CATCAGTGGATCTGAGAACACCAGT
- Phenotype
-
MIM: 615740
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TBC1D5
PubMed Links
Gene Details
- Gene
- TBC1D5
- Gene Name
- TBC1 domain family member 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001134381.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
NP_001127853.1 |
NM_014744.2 |
2383 |
Missense Mutation |
AGC,GGC |
S764G |
NP_055559.1 |
XM_005265611.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_005265668.1 |
XM_005265612.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_005265669.1 |
XM_005265614.1 |
2383 |
Missense Mutation |
AGC,GGC |
S764G |
XP_005265671.1 |
XM_005265615.1 |
2383 |
Missense Mutation |
AGC,GGC |
S650G |
XP_005265672.1 |
XM_005265616.4 |
2383 |
Missense Mutation |
AGC,GGC |
S650G |
XP_005265673.1 |
XM_006713430.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_006713493.1 |
XM_011534281.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_011532583.1 |
XM_011534283.2 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_011532585.1 |
XM_011534284.2 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_011532586.1 |
XM_011534286.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_011532588.1 |
XM_011534287.1 |
2383 |
Missense Mutation |
AGC,GGC |
S650G |
XP_011532589.1 |
XM_017007552.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_016863041.1 |
XM_017007553.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_016863042.1 |
XM_017007554.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_016863043.1 |
XM_017007555.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_016863044.1 |
XM_017007556.1 |
2383 |
Missense Mutation |
AGC,GGC |
S786G |
XP_016863045.1 |
XM_017007557.1 |
2383 |
Missense Mutation |
AGC,GGC |
S764G |
XP_016863046.1 |
XM_017007558.1 |
2383 |
Missense Mutation |
AGC,GGC |
S764G |
XP_016863047.1 |
XM_017007559.1 |
2383 |
Missense Mutation |
AGC,GGC |
S764G |
XP_016863048.1 |
XM_017007560.1 |
2383 |
Missense Mutation |
AGC,GGC |
S764G |
XP_016863049.1 |
XM_017007561.1 |
2383 |
Missense Mutation |
AGC,GGC |
S764G |
XP_016863050.1 |
XM_017007562.1 |
2383 |
Missense Mutation |
AGC,GGC |
S650G |
XP_016863051.1 |
XM_017007563.1 |
2383 |
Missense Mutation |
AGC,GGC |
S628G |
XP_016863052.1 |
XM_017007564.1 |
2383 |
Missense Mutation |
AGC,GGC |
S628G |
XP_016863053.1 |
XM_017007565.1 |
2383 |
Missense Mutation |
AGC,GGC |
S628G |
XP_016863054.1 |
XM_017007566.1 |
2383 |
Missense Mutation |
AGC,GGC |
S628G |
XP_016863055.1 |
XM_017007567.1 |
2383 |
Missense Mutation |
AGC,GGC |
S628G |
XP_016863056.1 |
XM_017007568.1 |
2383 |
Intron |
|
|
XP_016863057.1 |
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