Product Details

SNP ID
rs201073930
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:75422752 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGTGGACCTTCCCGTCACACACA[C/G]TGACTCCACAGCTTTCCTGGGTGGA
Phenotype
MIM: 600454
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KLHL35 PubMed Links

Gene Details

Gene
KLHL35
Gene Name
kelch like family member 35
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039548.2 1580 Missense Mutation ACT,AGT T527S NP_001034637.2
XM_011544954.2 1580 Missense Mutation ACT,AGT T530S XP_011543256.1
Gene
RPS3
Gene Name
ribosomal protein S3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005.4 1580 Intron NP_000996.2
NM_001256802.1 1580 Intron NP_001243731.1
NM_001260506.1 1580 Intron NP_001247435.1
NM_001260507.1 1580 Intron NP_001247436.1

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