Product Details

SNP ID
rs116373735
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:56811753 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCACTGCCACACACAGGGTTAAA[A/G]TGTCTGGGACATCCTGGTAATCTAT
Phenotype
MIM: 605753
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPINK2 PubMed Links

Gene Details

Gene
SPINK2
Gene Name
serine peptidase inhibitor, Kazal type 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271718.1 649 Silent Mutation CAC,CAT H97H NP_001258647.1
NM_001271719.1 649 Missense Mutation ACT,ATT T84I NP_001258648.1
NM_001271720.1 649 Silent Mutation CAC,CAT H82H NP_001258649.1
NM_001271721.1 649 Missense Mutation ACT,ATT T69I NP_001258650.1
NM_001271722.1 649 Intron NP_001258651.1
NM_021114.3 649 Silent Mutation CAC,CAT H47H NP_066937.1
XM_011534405.1 649 Silent Mutation CAC,CAT H149H XP_011532707.1
XM_011534406.2 649 UTR 3 XP_011532708.1

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