Product Details

SNP ID
rs201418062
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:101062998 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTCGTTCGCAGAGTCCGCTCTGC[A/G]GGTCCGACGGTCACACCTACTCCCA
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 1331 UTR 5 NP_001306232.1
NM_030929.4 1331 Missense Mutation AGG,GGG R136G NP_112191.2
XM_005270194.3 1331 Missense Mutation AGG,GGG R136G XP_005270251.1
XM_017016714.1 1331 Missense Mutation AGG,GGG R136G XP_016872203.1
XM_017016715.1 1331 Missense Mutation AGG,GGG R136G XP_016872204.1

View Full Product Details