Product Details

SNP ID
rs12520927
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:160051150 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TCAGAGATTACCTAAGCAAATTGAA[A/G]AACGTAATGAAAGACTAAAAGAAGA
Phenotype
MIM: 601963
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PWWP2A PubMed Links

Gene Details

Gene
PWWP2A
Gene Name
PWWP domain containing 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130864.1 832 Intron NP_001124336.1
NM_001267035.1 832 Intron NP_001253964.1
NM_052927.2 832 Intron NP_443159.1
XM_005265811.3 832 Intron XP_005265868.1
XM_005265812.2 832 Intron XP_005265869.1
XM_006714817.3 832 Intron XP_006714880.1
XM_011534424.2 832 Intron XP_011532726.1
XM_017009009.1 832 Intron XP_016864498.1
XM_017009010.1 832 Intron XP_016864499.1
XM_017009011.1 832 Intron XP_016864500.1
XM_017009012.1 832 Intron XP_016864501.1
Gene
TTC1
Gene Name
tetratricopeptide repeat domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282500.1 832 Missense Mutation AAA,GAA K238E NP_001269429.1
NM_003314.2 832 Missense Mutation AAA,GAA K238E NP_003305.1

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