Product Details

SNP ID
rs1049646
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195276206 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTACTTTTTTTCTTTTTCAAAATG[A/C]ACTCATGAAGAACCAAAGTTCATAT
Phenotype
MIM: 607766 MIM: 614552
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ACAP2 PubMed Links

Gene Details

Gene
ACAP2
Gene Name
ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012287.5 5700 UTR 3 NP_036419.3
XM_006713557.3 5700 UTR 3 XP_006713620.1
XM_011512602.2 5700 Intron XP_011510904.1
XM_011512603.2 5700 Intron XP_011510905.1
XM_011512604.2 5700 Intron XP_011510906.1
XM_011512605.2 5700 Intron XP_011510907.1
XM_011512606.2 5700 Intron XP_011510908.1
XM_017006046.1 5700 UTR 3 XP_016861535.1
XM_017006047.1 5700 Intron XP_016861536.1
XM_017006048.1 5700 UTR 3 XP_016861537.1
XM_017006049.1 5700 UTR 3 XP_016861538.1
Gene
XXYLT1
Gene Name
xyloside xylosyltransferase 1
There are no transcripts associated with this gene.

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