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- SNP ID:
- rs140098905
- Gene
-
GGCXMAT2A - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 85550558 - 85550558 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
ACAAATATTGTTGTGAACTTACCTG[C/T]GGCGAAAGACATAGAGCTTTCGCAA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 137167
MIM: 601468
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Literature Links: |
GGCX 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 |
| GGCX - gamma-glutamyl carboxylase | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000821.6 | 2003 | Missense Mutation | CAC,CGC | H,R 694 | NP_000812.2 | |
| NM_001142269.3 | 2003 | Missense Mutation | CAC,CGC | H,R 637 | NP_001135741.1 | |
| NM_001311312.1 | 2003 | Intron | NP_001298241.1 | |||
| XM_005264259.4 | 2003 | Missense Mutation | CAC,CGC | H,R 692 | XP_005264316.1 | |
| XM_011532764.2 | 2003 | Missense Mutation | CAC,CGC | H,R 420 | XP_011531066.1 | |
| XM_011532765.2 | 2003 | Missense Mutation | CAC,CGC | H,R 420 | XP_011531067.1 | |
| XM_017003803.1 | 2003 | Missense Mutation | CAC,CGC | H,R 635 | XP_016859292.1 | |
| MAT2A - methionine adenosyltransferase 2A | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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