Product Details
- SNP ID
-
rs78507884
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:151078662 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTGCCGGGCCAGGTGCTGGGCCAGG[T/A]GCACCATCACGTGGGGAGTCAGTTC
- Phenotype
-
MIM: 616813
MIM: 606965
MIM: 109280
MIM: 614792
- Polymorphism
- T/A, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
AGAP3
PubMed Links
Gene Details
- Gene
- AGAP3
- Gene Name
- ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
There are no transcripts associated with this gene.
- Gene
- FASTK
- Gene Name
- Fas activated serine/threonine kinase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001258461.1 |
397 |
Missense Mutation |
CAC,CTC |
H215L |
NP_001245390.1 |
NM_006712.4 |
397 |
Missense Mutation |
CAC,CTC |
H242L |
NP_006703.1 |
NM_033015.3 |
397 |
Missense Mutation |
CAC,CTC |
H101L |
NP_148936.2 |
XM_005249932.1 |
397 |
Missense Mutation |
CAC,CTC |
H208L |
XP_005249989.1 |
XM_005249933.3 |
397 |
Missense Mutation |
CAC,CTC |
H208L |
XP_005249990.1 |
XM_011515761.2 |
397 |
Missense Mutation |
CAC,CTC |
H242L |
XP_011514063.1 |
XM_011515762.2 |
397 |
Missense Mutation |
CAC,CTC |
H242L |
XP_011514064.1 |
XM_011515763.1 |
397 |
Missense Mutation |
CAC,CTC |
H74L |
XP_011514065.1 |
XM_017011704.1 |
397 |
Missense Mutation |
CAC,CTC |
H181L |
XP_016867193.1 |
XM_017011705.1 |
397 |
Missense Mutation |
CAC,CTC |
H101L |
XP_016867194.1 |
XM_017011706.1 |
397 |
Missense Mutation |
CAC,CTC |
H3L |
XP_016867195.1 |
- Gene
- SLC4A2
- Gene Name
- solute carrier family 4 member 2
There are no transcripts associated with this gene.
- Gene
- TMUB1
- Gene Name
- transmembrane and ubiquitin like domain containing 1
There are no transcripts associated with this gene.
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