Product Details

SNP ID
rs149434198
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96129826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCTTCCTGCCATGCCACTCACCT[C/T]TCCCACGGGGCCTGGGGCCACTTGG
Phenotype
MIM: 608860
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASTL PubMed Links

Gene Details

Gene
ASTL
Gene Name
astacin-like metallo-endopeptidase (M12 family)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002036.3 1687 Missense Mutation AAA,AGA K291R NP_001002036.3
XM_011511205.2 1687 Missense Mutation AAA,AGA K296R XP_011509507.1
XM_011511206.2 1687 Missense Mutation AAA,AGA K292R XP_011509508.1
XM_011511207.2 1687 Missense Mutation AAA,AGA K278R XP_011509509.1
XM_011511208.2 1687 Intron XP_011509510.1

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