Product Details
- SNP ID
-
rs138378289
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:143952775 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGAATGTACATTAAAGCAGCTACCT[C/G]GAAATATTTCGGGATAAACCAAATC
- Phenotype
-
MIM: 610165
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
GTDC1
PubMed Links
Gene Details
- Gene
- GTDC1
- Gene Name
- glycosyltransferase like domain containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001006636.3 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
NP_001006637.1 |
NM_001164629.3 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
NP_001158101.1 |
NM_001284233.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q352E |
NP_001271162.1 |
NM_001284234.1 |
1270 |
Missense Mutation |
CCA,CGA |
P271R |
NP_001271163.1 |
NM_001284235.1 |
1270 |
Intron |
|
|
NP_001271164.1 |
NM_001284238.1 |
1270 |
Missense Mutation |
CCA,CGA |
P368R |
NP_001271167.1 |
NM_024659.4 |
1270 |
Missense Mutation |
CCA,CGA |
P315R |
NP_078935.2 |
XM_005263774.2 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_005263831.1 |
XM_005263782.2 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_005263839.1 |
XM_005263784.2 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_005263841.1 |
XM_011511843.2 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_011510145.1 |
XM_011511855.2 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_011510157.1 |
XM_011511856.2 |
1270 |
Missense Mutation |
CCA,CGA |
P417R |
XP_011510158.1 |
XM_017004917.1 |
1270 |
Missense Mutation |
CCA,CGA |
P458R |
XP_016860406.1 |
XM_017004918.1 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_016860407.1 |
XM_017004919.1 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_016860408.1 |
XM_017004920.1 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_016860409.1 |
XM_017004921.1 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_016860410.1 |
XM_017004922.1 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_016860411.1 |
XM_017004923.1 |
1270 |
Missense Mutation |
CCA,CGA |
P449R |
XP_016860412.1 |
XM_017004924.1 |
1270 |
Missense Mutation |
CCA,CGA |
P417R |
XP_016860413.1 |
XM_017004925.1 |
1270 |
Missense Mutation |
CCA,CGA |
P417R |
XP_016860414.1 |
XM_017004926.1 |
1270 |
Missense Mutation |
CCA,CGA |
P409R |
XP_016860415.1 |
XM_017004927.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860416.1 |
XM_017004928.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860417.1 |
XM_017004929.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860418.1 |
XM_017004930.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860419.1 |
XM_017004931.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860420.1 |
XM_017004932.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860421.1 |
XM_017004933.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860422.1 |
XM_017004934.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860423.1 |
XM_017004935.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860424.1 |
XM_017004936.1 |
1270 |
Missense Mutation |
CCA,CGA |
P400R |
XP_016860425.1 |
XM_017004937.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q410E |
XP_016860426.1 |
XM_017004938.1 |
1270 |
Missense Mutation |
CCA,CGA |
P373R |
XP_016860427.1 |
XM_017004939.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q401E |
XP_016860428.1 |
XM_017004940.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q361E |
XP_016860429.1 |
XM_017004941.1 |
1270 |
Missense Mutation |
CCA,CGA |
P324R |
XP_016860430.1 |
XM_017004942.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q352E |
XP_016860431.1 |
XM_017004943.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q352E |
XP_016860432.1 |
XM_017004944.1 |
1270 |
Missense Mutation |
CCA,CGA |
P315R |
XP_016860433.1 |
XM_017004945.1 |
1270 |
Missense Mutation |
CCA,CGA |
P315R |
XP_016860434.1 |
XM_017004946.1 |
1270 |
Missense Mutation |
CCA,CGA |
P315R |
XP_016860435.1 |
XM_017004947.1 |
1270 |
Missense Mutation |
CCA,CGA |
P315R |
XP_016860436.1 |
XM_017004948.1 |
1270 |
Missense Mutation |
CCA,CGA |
P315R |
XP_016860437.1 |
XM_017004949.1 |
1270 |
Missense Mutation |
CCA,CGA |
P291R |
XP_016860438.1 |
XM_017004950.1 |
1270 |
Missense Mutation |
CCA,CGA |
P282R |
XP_016860439.1 |
XM_017004951.1 |
1270 |
Missense Mutation |
CCA,CGA |
P282R |
XP_016860440.1 |
XM_017004952.1 |
1270 |
Missense Mutation |
CCA,CGA |
P282R |
XP_016860441.1 |
XM_017004953.1 |
1270 |
Missense Mutation |
CCA,CGA |
P282R |
XP_016860442.1 |
XM_017004954.1 |
1270 |
Missense Mutation |
CCA,CGA |
P282R |
XP_016860443.1 |
XM_017004955.1 |
1270 |
Missense Mutation |
CCA,CGA |
P282R |
XP_016860444.1 |
XM_017004956.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q243E |
XP_016860445.1 |
XM_017004957.1 |
1270 |
Missense Mutation |
CAG,GAG |
Q234E |
XP_016860446.1 |
- Gene
- LOC101928386
- Gene Name
- uncharacterized LOC101928386
There are no transcripts associated with this gene.
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