Product Details
- SNP ID
-
rs140034829
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.22:29789044 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGGATCATGCCTTTGCTCCTCTTG[C/T]GGTCGGCCATGGTTCTCCGGTTGTG
- Phenotype
-
MIM: 614216
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ASCC2
PubMed Links
Gene Details
- Gene
- ASCC2
- Gene Name
- activating signal cointegrator 1 complex subunit 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001242906.1 |
2427 |
Missense Mutation |
CAC,CGC |
H672R |
NP_001229835.1 |
NM_032204.4 |
2427 |
Missense Mutation |
CAC,CGC |
H748R |
NP_115580.2 |
XM_005261775.2 |
2427 |
Missense Mutation |
CAC,CGC |
H748R |
XP_005261832.1 |
XM_011530442.2 |
2427 |
Missense Mutation |
CAC,CGC |
H753R |
XP_011528744.1 |
XM_011530443.2 |
2427 |
Missense Mutation |
CAC,CGC |
H753R |
XP_011528745.1 |
XM_011530444.2 |
2427 |
Missense Mutation |
CAC,CGC |
H753R |
XP_011528746.1 |
XM_011530445.2 |
2427 |
Missense Mutation |
CAC,CGC |
H753R |
XP_011528747.1 |
XM_011530446.2 |
2427 |
Missense Mutation |
CAC,CGC |
H753R |
XP_011528748.1 |
XM_011530448.2 |
2427 |
Missense Mutation |
CAC,CGC |
H700R |
XP_011528750.1 |
XM_011530449.2 |
2427 |
Missense Mutation |
CAC,CGC |
H700R |
XP_011528751.1 |
XM_011530450.2 |
2427 |
Missense Mutation |
CAC,CGC |
H639R |
XP_011528752.1 |
XM_011530451.2 |
2427 |
Missense Mutation |
CAC,CGC |
H639R |
XP_011528753.1 |
XM_011530452.2 |
2427 |
Missense Mutation |
CAC,CGC |
H639R |
XP_011528754.1 |
XM_011530453.2 |
2427 |
Missense Mutation |
CAC,CGC |
H639R |
XP_011528755.1 |
XM_011530454.2 |
2427 |
Missense Mutation |
CAC,CGC |
H639R |
XP_011528756.1 |
XM_011530455.2 |
2427 |
Missense Mutation |
CAC,CGC |
H639R |
XP_011528757.1 |
XM_017028991.1 |
2427 |
Missense Mutation |
CAC,CGC |
H807R |
XP_016884480.1 |
XM_017028992.1 |
2427 |
Missense Mutation |
CAC,CGC |
H802R |
XP_016884481.1 |
XM_017028993.1 |
2427 |
Missense Mutation |
CAC,CGC |
H782R |
XP_016884482.1 |
XM_017028994.1 |
2427 |
Missense Mutation |
CAC,CGC |
H777R |
XP_016884483.1 |
XM_017028995.1 |
2427 |
Missense Mutation |
CAC,CGC |
H754R |
XP_016884484.1 |
XM_017028996.1 |
2427 |
Missense Mutation |
CAC,CGC |
H753R |
XP_016884485.1 |
XM_017028997.1 |
2427 |
Missense Mutation |
CAC,CGC |
H749R |
XP_016884486.1 |
XM_017028998.1 |
2427 |
Missense Mutation |
CAC,CGC |
H748R |
XP_016884487.1 |
XM_017028999.1 |
2427 |
Missense Mutation |
CAC,CGC |
H748R |
XP_016884488.1 |
XM_017029000.1 |
2427 |
Missense Mutation |
CAC,CGC |
H748R |
XP_016884489.1 |
XM_017029001.1 |
2427 |
Missense Mutation |
CAC,CGC |
H695R |
XP_016884490.1 |
XM_017029002.1 |
2427 |
Missense Mutation |
CAC,CGC |
H695R |
XP_016884491.1 |
XM_017029003.1 |
2427 |
Missense Mutation |
CAC,CGC |
H695R |
XP_016884492.1 |
XM_017029004.1 |
2427 |
Missense Mutation |
CAC,CGC |
H670R |
XP_016884493.1 |
XM_017029005.1 |
2427 |
Missense Mutation |
CAC,CGC |
H634R |
XP_016884494.1 |
XM_017029006.1 |
2427 |
Missense Mutation |
CAC,CGC |
H634R |
XP_016884495.1 |
XM_017029007.1 |
2427 |
Missense Mutation |
CAC,CGC |
H634R |
XP_016884496.1 |
XM_017029008.1 |
2427 |
Missense Mutation |
CAC,CGC |
H634R |
XP_016884497.1 |
XM_017029009.1 |
2427 |
Missense Mutation |
CAC,CGC |
H634R |
XP_016884498.1 |
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