Product Details

SNP ID

rs145827595

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43018708 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCGGCACTTCCATGACCTCTGGA[A/G]GTTTAATCCTGGTAAAGAGCACTGC

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	1114	Missense Mutation	AAG,AGG	K270R	NP_476502.1

Gene

MEA1

Gene Name

male-enhanced antigen 1

There are no transcripts associated with this gene.

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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