Product Details

SNP ID
rs201269168
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:9406847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATTGCAGGATTCAGGGTTTCTCA[C/G]ATGTTAATACAGAGTCAAAAGCGGT
Phenotype
MIM: 603817 MIM: 607153
Polymorphism
C/G, Transversion 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 1323 Missense Mutation TCT,TGT S197C NP_001305995.1
NM_001319067.1 1323 Missense Mutation TCT,TGT S197C NP_001305996.1
NM_001319068.1 1323 Missense Mutation TCT,TGT S197C NP_001305997.1
NM_001319069.1 1323 Missense Mutation TCT,TGT S153C NP_001305998.1
NM_001319070.1 1323 Missense Mutation TCT,TGT S125C NP_001305999.1
NM_004763.4 1323 Missense Mutation TCT,TGT S197C NP_004754.1
NM_022334.4 1323 Missense Mutation TCT,TGT S147C NP_071729.1
XM_005246183.4 1323 Missense Mutation TCT,TGT S197C XP_005246240.1
XM_005246184.4 1323 Missense Mutation TCT,TGT S197C XP_005246241.1
XM_005246185.4 1323 Missense Mutation TCT,TGT S197C XP_005246242.1
XM_005246189.4 1323 Missense Mutation TCT,TGT S147C XP_005246246.1
XM_006711903.3 1323 Missense Mutation TCT,TGT S197C XP_006711966.1
XM_011510416.2 1323 Missense Mutation TCT,TGT S197C XP_011508718.1
XM_017005267.1 1323 Missense Mutation TCT,TGT S197C XP_016860756.1
XM_017005268.1 1323 Missense Mutation TCT,TGT S197C XP_016860757.1
XM_017005269.1 1323 Missense Mutation TCT,TGT S147C XP_016860758.1
XM_017005270.1 1323 Missense Mutation TCT,TGT S147C XP_016860759.1

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