Product Details

SNP ID
rs143546562
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:59485116 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCGCTTGGAGCCTGGGTTTTGCTT[A/G]GTAAGTGATAGGCTGTTTATTTCAG
Phenotype
MIM: 611176 MIM: 614811
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
JKAMP PubMed Links

Gene Details

Gene
JKAMP
Gene Name
JNK1/MAPK8-associated membrane protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098625.2 127 Intron NP_001092095.1
NM_001284201.1 127 Missense Mutation ACT,GCT T16A NP_001271130.1
NM_001284202.1 127 Missense Mutation ACA,GCA T16A NP_001271131.1
NM_001284203.1 127 Intron NP_001271132.1
NM_001284204.1 127 Intron NP_001271133.1
NM_016475.4 127 Intron NP_057559.2
XM_006720171.3 127 Missense Mutation ACT,GCT T16A XP_006720234.1
XM_017021366.1 127 Intron XP_016876855.1
Gene
L3HYPDH
Gene Name
trans-L-3-hydroxyproline dehydratase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144581.1 127 Intron NP_653182.1
XM_005267298.3 127 Intron XP_005267355.1
XM_011536386.2 127 Intron XP_011534688.1
XM_011536387.1 127 Intron XP_011534689.1
XM_011536388.1 127 Intron XP_011534690.1

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