Product Details

SNP ID
rs201689365
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:70354133 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGGTTGGTGCCGGCCAGAAGGGC[C/G]GGGGACTGGGAGTTGGCAGTCACGG
Phenotype
MIM: 615125 MIM: 604372
Polymorphism
C/G, Transversion 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_030816.4 294 Silent Mutation CCC,CCG P92P NP_110443.3
XM_005271234.3 294 Silent Mutation CCC,CCG P92P XP_005271291.1
XM_005271235.3 294 Silent Mutation CCC,CCG P92P XP_005271292.1
XM_006710929.3 294 Silent Mutation CCC,CCG P92P XP_006710992.1
XM_017002413.1 294 Intron XP_016857902.1
XM_017002414.1 294 Intron XP_016857903.1
XM_017002415.1 294 Intron XP_016857904.1
XM_017002416.1 294 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_001031693.2 294 Intron NP_001026863.1
NM_001036645.1 294 Intron NP_001031722.1
NM_001036646.1 294 Intron NP_001031723.1
XM_011540547.2 294 UTR 5 XP_011538849.1
XM_011540548.2 294 Intron XP_011538850.1

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