Product Details

SNP ID

rs183943030

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:42387474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGAGGAGCAAAAGTGCCGCACA[A/G]ACCTGGGCGGGGCGCAGGCGCTCAG

Phenotype

MIM: 611764 MIM: 604267

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CNFN PubMed Links

Gene Details

Gene

CNFN

Gene Name

cornifelin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032488.3	170	Silent Mutation	CTG,TTG	L39L	NP_115877.2
XM_005259332.2	170	Silent Mutation	CTG,TTG	L52L	XP_005259389.1
XM_011527396.1	170	Silent Mutation	CTG,TTG	L52L	XP_011525698.1
XM_011527397.1	170	Silent Mutation	CTG,TTG	L52L	XP_011525699.1

Gene

LIPE-AS1

Gene Name

LIPE antisense RNA 1

There are no transcripts associated with this gene.

Gene

LOC101930071

Gene Name

uncharacterized LOC101930071

There are no transcripts associated with this gene.

Gene

MEGF8

Gene Name

multiple EGF like domains 8

There are no transcripts associated with this gene.

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