Product Details
- SNP ID
-
rs200270654
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:6395934 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CACGGCCAGGAAGGAGAGGAAACGC[A/C]CCCGACACTCTCCCAGCACTGCCTC
- Phenotype
-
MIM: 602709
MIM: 607608
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
APBB1
PubMed Links
Gene Details
- Gene
- APBB1
- Gene Name
- amyloid beta precursor protein binding family B member 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001164.4 |
1421 |
Missense Mutation |
GGG,GTG |
G606V |
NP_001155.1 |
NM_001257319.2 |
1421 |
Missense Mutation |
GGG,GTG |
G386V |
NP_001244248.1 |
NM_001257320.2 |
1421 |
Missense Mutation |
GGG,GTG |
G347V |
NP_001244249.1 |
NM_001257321.2 |
1421 |
Missense Mutation |
GGG,GTG |
G347V |
NP_001244250.1 |
NM_001257323.2 |
1421 |
Missense Mutation |
GGG,GTG |
G384V |
NP_001244252.1 |
NM_001257325.2 |
1421 |
Missense Mutation |
GGG,GTG |
G371V |
NP_001244254.1 |
NM_001257326.2 |
1421 |
Missense Mutation |
GGG,GTG |
G347V |
NP_001244255.1 |
NM_145689.2 |
1421 |
Missense Mutation |
GGG,GTG |
G604V |
NP_663722.1 |
XM_006718209.3 |
1421 |
Missense Mutation |
GGG,GTG |
G707V |
XP_006718272.2 |
XM_006718210.3 |
1421 |
Missense Mutation |
GGG,GTG |
G702V |
XP_006718273.2 |
XM_006718211.1 |
1421 |
Missense Mutation |
GGG,GTG |
G707V |
XP_006718274.1 |
XM_006718212.3 |
1421 |
Missense Mutation |
GGG,GTG |
G611V |
XP_006718275.2 |
XM_006718213.1 |
1421 |
Missense Mutation |
GGG,GTG |
G702V |
XP_006718276.1 |
XM_006718214.3 |
1421 |
Missense Mutation |
GGG,GTG |
G609V |
XP_006718277.2 |
XM_006718215.3 |
1421 |
Missense Mutation |
GGG,GTG |
G698V |
XP_006718278.3 |
XM_011520037.2 |
1421 |
Missense Mutation |
GGG,GTG |
G443V |
XP_011518339.1 |
XM_011520038.2 |
1421 |
Missense Mutation |
GGG,GTG |
G443V |
XP_011518340.1 |
XM_011520040.2 |
1421 |
Missense Mutation |
GGG,GTG |
G347V |
XP_011518342.1 |
XM_011520042.1 |
1421 |
Missense Mutation |
GGG,GTG |
G482V |
XP_011518344.1 |
XM_017017639.1 |
1421 |
Missense Mutation |
GGG,GTG |
G611V |
XP_016873128.1 |
XM_017017640.1 |
1421 |
Missense Mutation |
GGG,GTG |
G609V |
XP_016873129.1 |
XM_017017641.1 |
1421 |
Missense Mutation |
GGG,GTG |
G604V |
XP_016873130.1 |
XM_017017642.1 |
1421 |
Missense Mutation |
GGG,GTG |
G345V |
XP_016873131.1 |
- Gene
- SMPD1
- Gene Name
- sphingomyelin phosphodiesterase 1
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