Product Details
- SNP ID
-
rs192407835
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:2948317 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGTCCTCACGGAGAGGAAAAGCGG[A/C]CGCAGAAGAGAATCCCGTTGGTCTT
- Phenotype
-
MIM: 173321
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
SERPINB6
PubMed Links
Gene Details
- Gene
- SERPINB6
- Gene Name
- serpin family B member 6
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001195291.2 |
1696 |
Missense Mutation |
GGC,GTC |
G375V |
NP_001182220.2 |
NM_001271822.1 |
1696 |
Missense Mutation |
GGC,GTC |
G385V |
NP_001258751.1 |
NM_001271823.1 |
1696 |
Missense Mutation |
GGC,GTC |
G390V |
NP_001258752.1 |
NM_001271824.1 |
1696 |
Missense Mutation |
GGC,GTC |
G371V |
NP_001258753.1 |
NM_001271825.1 |
1696 |
Missense Mutation |
GGC,GTC |
G371V |
NP_001258754.1 |
NM_001297699.1 |
1696 |
Missense Mutation |
GGC,GTC |
G371V |
NP_001284628.1 |
NM_001297700.1 |
1696 |
Missense Mutation |
GGC,GTC |
G371V |
NP_001284629.1 |
NM_004568.5 |
1696 |
Missense Mutation |
GGC,GTC |
G371V |
NP_004559.4 |
XM_011514672.1 |
1696 |
Missense Mutation |
GGC,GTC |
G449V |
XP_011512974.1 |
XM_011514673.1 |
1696 |
Missense Mutation |
GGC,GTC |
G371V |
XP_011512975.1 |
XM_011514674.2 |
1696 |
Missense Mutation |
GGC,GTC |
G371V |
XP_011512976.1 |
XM_011514676.2 |
1696 |
Missense Mutation |
GGC,GTC |
G327V |
XP_011512978.1 |
XM_017010940.1 |
1696 |
Missense Mutation |
GGC,GTC |
G375V |
XP_016866429.1 |
XM_017010941.1 |
1696 |
Missense Mutation |
GGC,GTC |
G327V |
XP_016866430.1 |
View Full Product Details