Product Details

SNP ID
rs148204704
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:101064363 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTACCCCATGGCCTCCATCGAGT[A/G]GAGGAAGGATGGCTTGGACATCCAG
Phenotype
MIM: 609208
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KAZALD1 PubMed Links

Gene Details

Gene
KAZALD1
Gene Name
Kazal type serine peptidase inhibitor domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319303.1 1539 Nonsense Mutation TAG,TGG *67W NP_001306232.1
NM_030929.4 1539 Nonsense Mutation TAG,TGG *205W NP_112191.2
XM_005270194.3 1539 Nonsense Mutation TAG,TGG *205W XP_005270251.1
XM_017016714.1 1539 Nonsense Mutation TAG,TGG *205W XP_016872203.1
XM_017016715.1 1539 Nonsense Mutation TAG,TGG *205W XP_016872204.1

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