Product Details

SNP ID
rs149025404
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:70354051 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCTCCTCACATCCCCCTTGAAGA[C/T]GCACTCGTGCACCGGGTAGTGTGCG
Phenotype
MIM: 615125 MIM: 604372
Polymorphism
C/T, 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_030816.4 212 Missense Mutation ATC,GTC I120V NP_110443.3
XM_005271234.3 212 Missense Mutation ATC,GTC I120V XP_005271291.1
XM_005271235.3 212 Missense Mutation ATC,GTC I120V XP_005271292.1
XM_006710929.3 212 Missense Mutation ATC,GTC I120V XP_006710992.1
XM_017002413.1 212 Intron XP_016857902.1
XM_017002414.1 212 UTR 5 XP_016857903.1
XM_017002415.1 212 UTR 5 XP_016857904.1
XM_017002416.1 212 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_001031693.2 212 Intron NP_001026863.1
NM_001036645.1 212 Intron NP_001031722.1
NM_001036646.1 212 Intron NP_001031723.1
XM_011540547.2 212 UTR 5 XP_011538849.1
XM_011540548.2 212 Intron XP_011538850.1

View Full Product Details