Product Details

SNP ID
rs200022385
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:15248803 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTGGAGGCACCAGCTCCACAGGA[C/T]GTTTGCCTTCAGCATTCTTGGCCTG
Phenotype
MIM: 300890
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASB9 PubMed Links

Gene Details

Gene
ASB9
Gene Name
ankyrin repeat and SOCS box containing 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031739.2 1185 Intron NP_001026909.1
NM_001168530.1 1185 Intron NP_001162002.1
NM_001168531.1 1185 Missense Mutation CAT,CGT H234R NP_001162003.1
NM_024087.2 1185 Intron NP_076992.1
XM_005274446.1 1185 Missense Mutation CAT,CGT H234R XP_005274503.1
XM_011545458.1 1185 Missense Mutation CAT,CGT H205R XP_011543760.1
XM_011545460.1 1185 Missense Mutation CAT,CGT H205R XP_011543762.1
XM_017029283.1 1185 Missense Mutation CAT,CGT H317R XP_016884772.1
XM_017029284.1 1185 Missense Mutation CAT,CGT H288R XP_016884773.1
XM_017029285.1 1185 Missense Mutation CAT,CGT H317R XP_016884774.1
XM_017029286.1 1185 Missense Mutation CAT,CGT H317R XP_016884775.1

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