Product Details
- SNP ID
-
rs200799506
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:4068860 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTCGGTGCCTTAATTTCTTCCTTCT[C/G]ATTTTCGGGAAAAGTCAGAGGTATA
- Phenotype
-
MIM: 602338
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FAM217A
PubMed Links
Gene Details
- Gene
- FAM217A
- Gene Name
- family with sequence similarity 217 member A
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_173563.2 |
1988 |
Missense Mutation |
CAG,GAG |
Q455E |
NP_775834.2 |
XM_005248951.3 |
1988 |
Missense Mutation |
CAG,GAG |
Q446E |
XP_005249008.1 |
XM_006715025.2 |
1988 |
Missense Mutation |
CAG,GAG |
Q392E |
XP_006715088.1 |
XM_006715026.3 |
1988 |
Missense Mutation |
CAG,GAG |
Q392E |
XP_006715089.1 |
XM_011514413.2 |
1988 |
Missense Mutation |
CAG,GAG |
Q392E |
XP_011512715.1 |
XM_011514414.2 |
1988 |
Missense Mutation |
CAG,GAG |
Q392E |
XP_011512716.1 |
XM_011514415.1 |
1988 |
Missense Mutation |
CAG,GAG |
Q445E |
XP_011512717.1 |
XM_011514416.2 |
1988 |
Missense Mutation |
CAG,GAG |
Q442E |
XP_011512718.1 |
XM_011514417.1 |
1988 |
Missense Mutation |
CAG,GAG |
Q407E |
XP_011512719.1 |
XM_017010480.1 |
1988 |
Missense Mutation |
CAG,GAG |
Q475E |
XP_016865969.1 |
XM_017010481.1 |
1988 |
Missense Mutation |
CAG,GAG |
Q446E |
XP_016865970.1 |
XM_017010482.1 |
1988 |
Missense Mutation |
CAG,GAG |
Q392E |
XP_016865971.1 |
- Gene
- PRPF4B
- Gene Name
- pre-mRNA processing factor 4B
There are no transcripts associated with this gene.
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