Product Details

SNP ID

rs139495245

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:40843190 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGAATACAGTACCTCCTCAATCT[A/G]TGGGGGCAAGCAGTAATTCAGAAGA

Phenotype

MIM: 609986 MIM: 604181

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CARD6 PubMed Links

Gene Details

Gene

CARD6

Gene Name

caspase recruitment domain family member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032587.3	397	Missense Mutation	ATG,GTG	M108V	NP_115976.2
XM_017009989.1	397	Intron			XP_016865478.1
XM_017009990.1	397	UTR 5			XP_016865479.1

Gene

RPL37

Gene Name

ribosomal protein L37

There are no transcripts associated with this gene.

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