Product Details

SNP ID

rs139536561

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50549318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCTACAACCCTCTGACCAACAT[C/G]TGGAGCCAGGTTCGGCCCATGCAGC

Phenotype

MIM: 615775

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KLHDC7B PubMed Links

Gene Details

Gene

KLHDC7B

Gene Name

kelch domain containing 7B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138433.3	1286	Missense Mutation	ATC,ATG	I384M	NP_612442.2

Gene

SYCE3

Gene Name

synaptonemal complex central element protein 3

There are no transcripts associated with this gene.

View Full Product Details