Product Details

SNP ID
rs188562043
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:56810156 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTCCATCAGCAGGGTCCATTTC[G/T]AATGATTTTAATATTATGACCACCT
Phenotype
MIM: 605753
Polymorphism
G/T, Transversion 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_001271718.1 559 Silent Mutation AGA,CGA R130R NP_001258647.1
NM_001271719.1 559 UTR 3 NP_001258648.1
NM_001271720.1 559 Silent Mutation AGA,CGA R115R NP_001258649.1
NM_001271721.1 559 UTR 3 NP_001258650.1
NM_001271722.1 559 Missense Mutation TTA,TTC L78F NP_001258651.1
NM_021114.3 559 Silent Mutation AGA,CGA R80R NP_066937.1
XM_011534405.1 559 Silent Mutation AGA,CGA R182R XP_011532707.1
XM_011534406.2 559 Intron XP_011532708.1

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