Product Details
- SNP ID
-
rs142466927
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:9406844 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACTTGATTGCAGGATTCAGGGTTTC[C/T]CAGATGTTAATACAGAGTCAAAAGC
- Phenotype
-
MIM: 603817
MIM: 607153
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ASAP2
PubMed Links
Gene Details
- Gene
- ASAP2
- Gene Name
- ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
There are no transcripts associated with this gene.
- Gene
- ITGB1BP1
- Gene Name
- integrin subunit beta 1 binding protein 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001319066.1 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
NP_001305995.1 |
NM_001319067.1 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
NP_001305996.1 |
NM_001319068.1 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
NP_001305997.1 |
NM_001319069.1 |
1326 |
Missense Mutation |
GAG,GGG |
E154G |
NP_001305998.1 |
NM_001319070.1 |
1326 |
Missense Mutation |
GAG,GGG |
E126G |
NP_001305999.1 |
NM_004763.4 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
NP_004754.1 |
NM_022334.4 |
1326 |
Missense Mutation |
GAG,GGG |
E148G |
NP_071729.1 |
XM_005246183.4 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
XP_005246240.1 |
XM_005246184.4 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
XP_005246241.1 |
XM_005246185.4 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
XP_005246242.1 |
XM_005246189.4 |
1326 |
Missense Mutation |
GAG,GGG |
E148G |
XP_005246246.1 |
XM_006711903.3 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
XP_006711966.1 |
XM_011510416.2 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
XP_011508718.1 |
XM_017005267.1 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
XP_016860756.1 |
XM_017005268.1 |
1326 |
Missense Mutation |
GAG,GGG |
E198G |
XP_016860757.1 |
XM_017005269.1 |
1326 |
Missense Mutation |
GAG,GGG |
E148G |
XP_016860758.1 |
XM_017005270.1 |
1326 |
Missense Mutation |
GAG,GGG |
E148G |
XP_016860759.1 |
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