Product Details

SNP ID
rs143028997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:66162801 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGACCCTGCTCCAGACACTTTA[A/C]ATTCAGAAGAGGAAAATGTGCCCAG
Phenotype
MIM: 300167
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
HEPH PubMed Links

Gene Details

Gene
HEPH
Gene Name
hephaestin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130860.3 253 Intron NP_001124332.1
NM_001282141.1 253 Intron NP_001269070.1
NM_014799.3 253 Intron NP_055614.1
NM_138737.4 253 Missense Mutation AAA,ACA K25T NP_620074.3
XM_006724722.1 253 Intron XP_006724785.1
XM_011531073.2 253 Missense Mutation AAA,ACA K25T XP_011529375.1
XM_011531074.2 253 Missense Mutation AAA,ACA K25T XP_011529376.1
XM_011531075.2 253 Missense Mutation AAA,ACA K25T XP_011529377.1
XM_017029998.1 253 Missense Mutation AAA,ACA K25T XP_016885487.1
XM_017029999.1 253 Intron XP_016885488.1
XM_017030000.1 253 Intron XP_016885489.1
XM_017030001.1 253 Intron XP_016885490.1
XM_017030002.1 253 Intron XP_016885491.1
XM_017030003.1 253 Intron XP_016885492.1

View Full Product Details