Product Details
- SNP ID
-
rs139751598
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:81934931 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTTCCCCCGCAGTCCTTACGTAGG[C/T]GGGGCCGCTGCCACTGAGCCCCGTG
- Phenotype
-
MIM: 602020
MIM: 179035
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MAFG
PubMed Links
Gene Details
- Gene
- MAFG
- Gene Name
- MAF bZIP transcription factor G
There are no transcripts associated with this gene.
- Gene
- MAFG-AS1
- Gene Name
- MAFG antisense RNA 1 (head to head)
There are no transcripts associated with this gene.
- Gene
- MYADML2
- Gene Name
- myeloid associated differentiation marker like 2
There are no transcripts associated with this gene.
- Gene
- PYCR1
- Gene Name
- pyrroline-5-carboxylate reductase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001282279.1 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
NP_001269208.1 |
NM_001282280.1 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
NP_001269209.1 |
NM_001282281.1 |
607 |
Missense Mutation |
ACC,GCC |
T206A |
NP_001269210.1 |
NM_006907.3 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
NP_008838.2 |
NM_153824.2 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
NP_722546.1 |
XM_005256381.2 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
XP_005256438.1 |
XM_011523583.2 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
XP_011521885.1 |
XM_011523584.2 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
XP_011521886.1 |
XM_011523585.2 |
607 |
Missense Mutation |
ACC,GCC |
T206A |
XP_011521887.1 |
XM_017024909.1 |
607 |
Missense Mutation |
ACC,GCC |
T179A |
XP_016880398.1 |
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