Product Details
- SNP ID
-
rs190617142
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
4
- Location
-
Chr.1:113895763 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGTAAGGACTGTTTTTACCTGATG[C/T]GGCAAAGGATGAAGTTTTAGGAAGC
- Phenotype
-
MIM: 607245
MIM: 609683
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
AP4B1
PubMed Links
Gene Details
- Gene
- AP4B1
- Gene Name
- adaptor related protein complex 4 beta 1 subunit
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001253852.2 |
1488 |
Missense Mutation |
ACA,GCA |
T596A |
NP_001240781.1 |
| NM_001253853.2 |
1488 |
Missense Mutation |
ACA,GCA |
T497A |
NP_001240782.1 |
| NM_001308312.1 |
1488 |
Missense Mutation |
ACA,GCA |
T428A |
NP_001295241.1 |
| NM_006594.4 |
1488 |
Missense Mutation |
ACA,GCA |
T596A |
NP_006585.2 |
| XM_011540523.2 |
1488 |
Missense Mutation |
ACA,GCA |
T521A |
XP_011538825.1 |
| XM_011540524.2 |
1488 |
Missense Mutation |
ACA,GCA |
T521A |
XP_011538826.1 |
| XM_011540525.2 |
1488 |
Missense Mutation |
ACA,GCA |
T503A |
XP_011538827.1 |
| XM_011540528.2 |
1488 |
Missense Mutation |
ACA,GCA |
T271A |
XP_011538830.1 |
| XM_017000088.1 |
1488 |
Missense Mutation |
ACA,GCA |
T557A |
XP_016855577.1 |
| XM_017000089.1 |
1488 |
Missense Mutation |
ACA,GCA |
T492A |
XP_016855578.1 |
| XM_017000090.1 |
1488 |
Missense Mutation |
ACA,GCA |
T428A |
XP_016855579.1 |
| XM_017000091.1 |
1488 |
Missense Mutation |
ACA,GCA |
T399A |
XP_016855580.1 |
| XM_017000092.1 |
1488 |
Missense Mutation |
ACA,GCA |
T271A |
XP_016855581.1 |
| XM_017000093.1 |
1488 |
Intron |
|
|
XP_016855582.1 |
- Gene
- AP4B1-AS1
- Gene Name
- AP4B1 antisense RNA 1
There are no transcripts associated with this gene.
- Gene
- BCL2L15
- Gene Name
- BCL2 like 15
There are no transcripts associated with this gene.
- Gene
- DCLRE1B
- Gene Name
- DNA cross-link repair 1B
There are no transcripts associated with this gene.
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