Product Details

SNP ID
rs200834618
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:70354201 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGCCGGGGCGCCGGGGGGATTGG[A/G]GGAGGCCGGAGCTGCCTTCAGCTGT
Phenotype
MIM: 615125 MIM: 604372
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ANKRD13C PubMed Links

Gene Details

Gene
ANKRD13C
Gene Name
ankyrin repeat domain 13C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030816.4 362 Missense Mutation CCC,TCC P70S NP_110443.3
XM_005271234.3 362 Missense Mutation CCC,TCC P70S XP_005271291.1
XM_005271235.3 362 Missense Mutation CCC,TCC P70S XP_005271292.1
XM_006710929.3 362 Missense Mutation CCC,TCC P70S XP_006710992.1
XM_017002413.1 362 Intron XP_016857902.1
XM_017002414.1 362 Intron XP_016857903.1
XM_017002415.1 362 Intron XP_016857904.1
XM_017002416.1 362 Intron XP_016857905.1
Gene
HHLA3
Gene Name
HERV-H LTR-associating 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031693.2 362 Intron NP_001026863.1
NM_001036645.1 362 Intron NP_001031722.1
NM_001036646.1 362 Intron NP_001031723.1
XM_011540547.2 362 UTR 5 XP_011538849.1
XM_011540548.2 362 Intron XP_011538850.1

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