Product Details

SNP ID

hCV88619162

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:40834200 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTACCTGAATCTGCGGTATACAA[C/T]TTTTAGGTGCCTCATTCGACCAGTT

Phenotype

MIM: 609986 MIM: 604181

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CARD6 PubMed Links

Gene Details

Gene

CARD6

Gene Name

caspase recruitment domain family member 6

There are no transcripts associated with this gene.

Gene

LOC100506548

Gene Name

uncharacterized LOC100506548

There are no transcripts associated with this gene.

Gene

RPL37

Gene Name

ribosomal protein L37

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000997.4	305	Missense Mutation	ATT,GTT	I69V	NP_000988.1

Gene

SNORD72

Gene Name

small nucleolar RNA, C/D box 72

There are no transcripts associated with this gene.

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