Product Details

SNP ID
rs181173911
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:178209426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCAACCGAGGGAACCGAGGCAGC[A/G]GAGGTGGTGGTGGAGGTGGAGGTGA
Phenotype
MIM: 602688 MIM: 614683
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HNRNPAB PubMed Links

Gene Details

Gene
HNRNPAB
Gene Name
heterogeneous nuclear ribonucleoprotein A/B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004499.3 1023 Missense Mutation AGA,GGA R256G NP_004490.2
NM_031266.2 1023 Missense Mutation AGA,GGA R256G NP_112556.2
Gene
PHYKPL
Gene Name
5-phosphohydroxy-L-lysine phospho-lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278346.1 1023 Intron NP_001265275.1
NM_153373.3 1023 Intron NP_699204.1
XM_006714925.2 1023 Intron XP_006714988.1
XM_011534669.2 1023 Intron XP_011532971.1
XM_011534670.2 1023 Intron XP_011532972.1
XM_011534671.2 1023 Intron XP_011532973.1
XM_011534672.2 1023 Intron XP_011532974.1
XM_011534674.2 1023 Intron XP_011532976.1
XM_011534676.2 1023 Intron XP_011532978.1
XM_017009995.1 1023 Intron XP_016865484.1
XM_017009996.1 1023 Intron XP_016865485.1
XM_017009997.1 1023 Intron XP_016865486.1
XM_017009998.1 1023 Intron XP_016865487.1
XM_017009999.1 1023 Intron XP_016865488.1

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