Product Details

SNP ID

hCV89937536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:26582826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACCCCCTCCAGAATGCCTTACT[A/T]CATGAAATCTGGAGACTTGGCCATT

Phenotype

MIM: 610646

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

C2orf70 PubMed Links

Gene Details

Gene

C2orf70

Gene Name

chromosome 2 open reading frame 70

There are no transcripts associated with this gene.

Gene

CIB4

Gene Name

calcium and integrin binding family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001029881.2	580	Missense Mutation	AAC,TAC	N176Y	NP_001025052.1

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