Product Details

SNP ID
rs200626369
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:70354021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGATATTGTGCGTGCGGATGAGAG[A/G]GGAGAGTCTCCTCACATCCCCCTTG
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_030816.4 182 Missense Mutation CCT,TCT P130S NP_110443.3
XM_005271234.3 182 Missense Mutation CCT,TCT P130S XP_005271291.1
XM_005271235.3 182 Missense Mutation CCT,TCT P130S XP_005271292.1
XM_006710929.3 182 Missense Mutation CCT,TCT P130S XP_006710992.1
XM_017002413.1 182 Intron XP_016857902.1
XM_017002414.1 182 UTR 5 XP_016857903.1
XM_017002415.1 182 UTR 5 XP_016857904.1
XM_017002416.1 182 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_001031693.2 182 Intron NP_001026863.1
NM_001036645.1 182 Intron NP_001031722.1
NM_001036646.1 182 Intron NP_001031723.1
XM_011540547.2 182 UTR 5 XP_011538849.1
XM_011540548.2 182 Intron XP_011538850.1

View Full Product Details