Product Details

SNP ID

rs141181037

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:41900875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTCCTTCTTGGCGTTGACACCTG[A/G]TATCTTGCCATTGATGGGCGACAGA

Phenotype

MIM: 605892 MIM: 605916

Polymorphism

A/G, Transition 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	1459	Missense Mutation	CCA,TCA	P466S	NP_644670.1
XM_017022100.1	1459	Missense Mutation	CCA,TCA	P378S	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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