Product Details

SNP ID

rs3745727

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48603555 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCGGCTTAGGTCCCACATGGAG[C/T]GGCTGGGCCGGGCCGGGGGGCCGCT

Phenotype

MIM: 609932 MIM: 604125

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM83E PubMed Links

Gene Details

Gene

FAM83E

Gene Name

family with sequence similarity 83 member E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017708.3	1180	Missense Mutation	CAC,CGC	H372R	NP_060178.2
XM_005259019.1	1180	Missense Mutation	CAC,CGC	H372R	XP_005259076.1
XM_011527049.2	1180	Intron			XP_011525351.1

Gene

SPACA4

Gene Name

sperm acrosome associated 4

There are no transcripts associated with this gene.

Gene

SULT2B1

Gene Name

sulfotransferase family 2B member 1

There are no transcripts associated with this gene.

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