Product Details

SNP ID

rs139620303

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:41900693 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGTGCGAGGGGGGCACGAGGTG[C/G]GGGGGCAGGCTGCTGGGCAGCTCGT

Phenotype

MIM: 605892 MIM: 605916

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EHD4 PubMed Links

Gene Details

Gene

EHD4

Gene Name

EH domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139265.3	1641	Silent Mutation	CCC,CCG	P526P	NP_644670.1
XM_017022100.1	1641	Silent Mutation	CCC,CCG	P438P	XP_016877589.1

Gene

LOC105370792

Gene Name

uncharacterized LOC105370792

There are no transcripts associated with this gene.

Gene

SPTBN5

Gene Name

spectrin beta, non-erythrocytic 5

There are no transcripts associated with this gene.

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