Product Details
- SNP ID
-
rs199422209
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:94378528 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTGTTCAATCATTAAGAAGACAAAG[G/A]GTTTGTTGAACTTGACCTCGGGGGG
- Phenotype
-
MIM: 107400
- Polymorphism
- G/A, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SERPINA1
PubMed Links
Gene Details
- Gene
- SERPINA1
- Gene Name
- serpin family A member 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000295.4 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_000286.3 |
NM_001002235.2 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001002235.1 |
NM_001002236.2 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001002236.1 |
NM_001127700.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121172.1 |
NM_001127701.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121173.1 |
NM_001127702.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121174.1 |
NM_001127703.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121175.1 |
NM_001127704.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121176.1 |
NM_001127705.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121177.1 |
NM_001127706.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121178.1 |
NM_001127707.1 |
1711 |
Missense Mutation |
CAC,CGC |
H393R |
NP_001121179.1 |
XM_017021370.1 |
1711 |
Missense Mutation |
|
|
XP_016876859.1 |
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