Product Details

SNP ID
rs143719397
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43017877 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATACGCACAAGTGGTTCACACCCC[A/G]AGTGTCAGGGACAGTTCCTGGGGCC
Phenotype
MIM: 611248 MIM: 143170 MIM: 601646 MIM: 613475
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
KLHDC3 PubMed Links

Gene Details

Gene
KLHDC3
Gene Name
kelch domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_057161.3 661 Missense Mutation CAA,CGA Q119R NP_476502.1
Gene
MEA1
Gene Name
male-enhanced antigen 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318942.1 661 Intron NP_001305871.1
NM_001318943.1 661 Intron NP_001305872.1
NM_014623.3 661 Intron NP_055438.1
XM_005249121.3 661 Intron XP_005249178.1
XM_017010868.1 661 Intron XP_016866357.1
Gene
PPP2R5D
Gene Name
protein phosphatase 2 regulatory subunit B'delta
There are no transcripts associated with this gene.

Gene
RRP36
Gene Name
ribosomal RNA processing 36
There are no transcripts associated with this gene.

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