Product Details

SNP ID

rs1064230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:52498771 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAAACTGTCACAATCCGTGTCC[A/C]TTTTATATATAACTATACTGAGGTA

Phenotype

MIM: 608815 MIM: 608485

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EFHC1 PubMed Links

Gene Details

Gene

EFHC1

Gene Name

EF-hand domain containing 1

There are no transcripts associated with this gene.

Gene

TRAM2

Gene Name

translocation associated membrane protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012288.3	5563	UTR 3			NP_036420.1
XM_011515005.2	5563	UTR 3			XP_011513307.1

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