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CCCTAGGTTCTGTTGTAAGCAGAGA[A/C]CTGAATTTACCATGTAGGGCTGCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610165 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GTDC1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GTDC1 - glycosyltransferase like domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001006636.3 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | NP_001006637.1 | |
NM_001164629.3 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | NP_001158101.1 | |
NM_001284233.1 | 1412 | UTR 3 | NP_001271162.1 | |||
NM_001284234.1 | 1412 | Missense Mutation | AGG,AGT | R,S 318 | NP_001271163.1 | |
NM_001284235.1 | 1412 | Intron | NP_001271164.1 | |||
NM_001284238.1 | 1412 | Missense Mutation | AGG,AGT | R,S 415 | NP_001271167.1 | |
NM_024659.4 | 1412 | Missense Mutation | AGG,AGT | R,S 362 | NP_078935.2 | |
XM_005263774.2 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_005263831.1 | |
XM_005263782.2 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_005263839.1 | |
XM_005263784.2 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_005263841.1 | |
XM_011511843.2 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_011510145.1 | |
XM_011511855.2 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_011510157.1 | |
XM_011511856.2 | 1412 | Missense Mutation | AGG,AGT | R,S 464 | XP_011510158.1 | |
XM_017004917.1 | 1412 | Missense Mutation | AGG,AGT | R,S 505 | XP_016860406.1 | |
XM_017004918.1 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_016860407.1 | |
XM_017004919.1 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_016860408.1 | |
XM_017004920.1 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_016860409.1 | |
XM_017004921.1 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_016860410.1 | |
XM_017004922.1 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_016860411.1 | |
XM_017004923.1 | 1412 | Missense Mutation | AGG,AGT | R,S 496 | XP_016860412.1 | |
XM_017004924.1 | 1412 | Missense Mutation | AGG,AGT | R,S 464 | XP_016860413.1 | |
XM_017004925.1 | 1412 | Missense Mutation | AGG,AGT | R,S 464 | XP_016860414.1 | |
XM_017004926.1 | 1412 | Missense Mutation | AGG,AGT | R,S 456 | XP_016860415.1 | |
XM_017004927.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860416.1 | |
XM_017004928.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860417.1 | |
XM_017004929.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860418.1 | |
XM_017004930.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860419.1 | |
XM_017004931.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860420.1 | |
XM_017004932.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860421.1 | |
XM_017004933.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860422.1 | |
XM_017004934.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860423.1 | |
XM_017004935.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860424.1 | |
XM_017004936.1 | 1412 | Missense Mutation | AGG,AGT | R,S 447 | XP_016860425.1 | |
XM_017004937.1 | 1412 | UTR 3 | XP_016860426.1 | |||
XM_017004938.1 | 1412 | Missense Mutation | AGG,AGT | R,S 420 | XP_016860427.1 | |
XM_017004939.1 | 1412 | UTR 3 | XP_016860428.1 | |||
XM_017004940.1 | 1412 | UTR 3 | XP_016860429.1 | |||
XM_017004941.1 | 1412 | Missense Mutation | AGG,AGT | R,S 371 | XP_016860430.1 | |
XM_017004942.1 | 1412 | UTR 3 | XP_016860431.1 | |||
XM_017004943.1 | 1412 | UTR 3 | XP_016860432.1 | |||
XM_017004944.1 | 1412 | Missense Mutation | AGG,AGT | R,S 362 | XP_016860433.1 | |
XM_017004945.1 | 1412 | Missense Mutation | AGG,AGT | R,S 362 | XP_016860434.1 | |
XM_017004946.1 | 1412 | Missense Mutation | AGG,AGT | R,S 362 | XP_016860435.1 | |
XM_017004947.1 | 1412 | Missense Mutation | AGG,AGT | R,S 362 | XP_016860436.1 | |
XM_017004948.1 | 1412 | Missense Mutation | AGG,AGT | R,S 362 | XP_016860437.1 | |
XM_017004949.1 | 1412 | Missense Mutation | AGG,AGT | R,S 338 | XP_016860438.1 | |
XM_017004950.1 | 1412 | Missense Mutation | AGG,AGT | R,S 329 | XP_016860439.1 | |
XM_017004951.1 | 1412 | Missense Mutation | AGG,AGT | R,S 329 | XP_016860440.1 | |
XM_017004952.1 | 1412 | Missense Mutation | AGG,AGT | R,S 329 | XP_016860441.1 | |
XM_017004953.1 | 1412 | Missense Mutation | AGG,AGT | R,S 329 | XP_016860442.1 | |
XM_017004954.1 | 1412 | Missense Mutation | AGG,AGT | R,S 329 | XP_016860443.1 | |
XM_017004955.1 | 1412 | Missense Mutation | AGG,AGT | R,S 329 | XP_016860444.1 | |
XM_017004956.1 | 1412 | UTR 3 | XP_016860445.1 | |||
XM_017004957.1 | 1412 | UTR 3 | XP_016860446.1 |
LOC101928386 - uncharacterized LOC101928386 | ||||||
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There are no transcripts associated with this gene. |