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GCTCCATCGCTGGCTCCTCCCTGGG[A/T]GGGACCTTGCTGGCCAAGCACTGGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138200 MIM: 609172 MIM: 603780 | ||||||||||||||||||||
Literature Links: |
GPT PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
GPT - glutamic--pyruvic transaminase | ||||||
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There are no transcripts associated with this gene. |
LOC101928953 - uncharacterized LOC101928953 | ||||||
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There are no transcripts associated with this gene. |
LRRC14 - leucine rich repeat containing 14 | ||||||
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There are no transcripts associated with this gene. |
MFSD3 - major facilitator superfamily domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_138431.2 | 2052 | Silent Mutation | GGA,GGT | G,G 269 | NP_612440.1 | |
XM_011516806.2 | 2052 | Missense Mutation | AGG,TGG | R,W 267 | XP_011515108.1 | |
XM_017013005.1 | 2052 | Silent Mutation | GGA,GGT | G,G 269 | XP_016868494.1 |
PPP1R16A - protein phosphatase 1 regulatory subunit 16A | ||||||
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There are no transcripts associated with this gene. |
RECQL4 - RecQ like helicase 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004260.3 | 2052 | Intron | NP_004251.3 | |||
XM_011517384.2 | 2052 | Intron | XP_011515686.1 | |||
XM_017013991.1 | 2052 | Intron | XP_016869480.1 | |||
XM_017013992.1 | 2052 | Intron | XP_016869481.1 | |||
XM_017013993.1 | 2052 | Intron | XP_016869482.1 | |||
XM_017013994.1 | 2052 | Intron | XP_016869483.1 | |||
XM_017013995.1 | 2052 | Intron | XP_016869484.1 | |||
XM_017013996.1 | 2052 | Intron | XP_016869485.1 | |||
XM_017013997.1 | 2052 | Intron | XP_016869486.1 | |||
XM_017013998.1 | 2052 | Intron | XP_016869487.1 | |||
XM_017013999.1 | 2052 | Intron | XP_016869488.1 | |||
XM_017014000.1 | 2052 | Intron | XP_016869489.1 | |||
XM_017014001.1 | 2052 | Intron | XP_016869490.1 |