Product Details
- SNP ID
-
rs144215612
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:2588436 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCAGCAGCTCTGGGGAAGCCCGTG[C/T]GTGATGTGGCTGCCAAGGTGTGTGC
- Phenotype
-
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
FAM213B
PubMed Links
Gene Details
- Gene
- FAM213B
- Gene Name
- family with sequence similarity 213 member B
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001195736.1 |
503 |
Missense Mutation |
CGT,TGT |
R171C |
NP_001182665.1 |
| NM_001195737.1 |
503 |
Missense Mutation |
CGT,TGT |
R153C |
NP_001182666.1 |
| NM_001195738.1 |
503 |
Missense Mutation |
CGT,TGT |
R153C |
NP_001182667.1 |
| NM_001195740.1 |
503 |
Missense Mutation |
CGT,TGT |
R153C |
NP_001182669.1 |
| NM_001195741.1 |
503 |
Missense Mutation |
CGT,TGT |
R153C |
NP_001182670.1 |
| NM_152371.3 |
503 |
Missense Mutation |
CGT,TGT |
R153C |
NP_689584.2 |
| XM_006710354.3 |
503 |
Missense Mutation |
CGT,TGT |
R153C |
XP_006710417.1 |
| XM_011540664.1 |
503 |
Missense Mutation |
CGT,TGT |
R171C |
XP_011538966.1 |
| XM_011540665.1 |
503 |
Missense Mutation |
CGT,TGT |
R171C |
XP_011538967.1 |
| XM_011540666.1 |
503 |
Missense Mutation |
CGT,TGT |
R171C |
XP_011538968.1 |
- Gene
- LOC100996583
- Gene Name
- uncharacterized LOC100996583
There are no transcripts associated with this gene.
- Gene
- MMEL1
- Gene Name
- membrane metallo-endopeptidase-like 1
There are no transcripts associated with this gene.
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