Product Details
- SNP ID
-
rs201567292
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:137940241 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAACGTATCTTATATGGATTTTGAA[C/G]AATCTTGTTTGCTTATAAGAACTTC
- Phenotype
-
MIM: 609371
MIM: 604669
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
FAM13B
PubMed Links
Gene Details
- Gene
- FAM13B
- Gene Name
- family with sequence similarity 13 member B
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001101800.2 |
2091 |
Missense Mutation |
TCT,TGT |
S883C |
NP_001095270.1 |
NM_001101801.2 |
2091 |
Missense Mutation |
TCT,TGT |
S787C |
NP_001095271.1 |
NM_016603.3 |
2091 |
Missense Mutation |
TCT,TGT |
S911C |
NP_057687.2 |
XM_005272007.1 |
2091 |
Missense Mutation |
TCT,TGT |
S905C |
XP_005272064.1 |
XM_006714647.1 |
2091 |
Missense Mutation |
TCT,TGT |
S933C |
XP_006714710.1 |
XM_006714648.1 |
2091 |
Missense Mutation |
TCT,TGT |
S933C |
XP_006714711.1 |
XM_006714649.1 |
2091 |
Missense Mutation |
TCT,TGT |
S815C |
XP_006714712.1 |
XM_011543448.1 |
2091 |
Missense Mutation |
TCT,TGT |
S933C |
XP_011541750.1 |
XM_011543449.1 |
2091 |
Missense Mutation |
TCT,TGT |
S933C |
XP_011541751.1 |
XM_011543450.1 |
2091 |
Missense Mutation |
TCT,TGT |
S933C |
XP_011541752.1 |
XM_017009549.1 |
2091 |
Missense Mutation |
TCT,TGT |
S911C |
XP_016865038.1 |
XM_017009550.1 |
2091 |
Missense Mutation |
TCT,TGT |
S911C |
XP_016865039.1 |
XM_017009551.1 |
2091 |
Missense Mutation |
TCT,TGT |
S793C |
XP_016865040.1 |
- Gene
- PKD2L2
- Gene Name
- polycystin 2 like 2, transient receptor potential cation channel
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