Product Details

SNP ID

rs148872443

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49163064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTTCTGCCCAACAGTCTCAGGG[C/T]GGTTTTTCTGGCCCTTCCTTGTAGT

Phenotype

MIM: 613169

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC71 PubMed Links

Gene Details

Gene

CCDC71

Gene Name

coiled-coil domain containing 71

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022903.3	1283	Missense Mutation			NP_075054.3

Gene

KLHDC8B

Gene Name

kelch domain containing 8B

There are no transcripts associated with this gene.

Gene

LAMB2P1

Gene Name

laminin subunit beta 2 pseudogene 1

There are no transcripts associated with this gene.

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