Product Details

SNP ID

rs143777875

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66848964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCCTTGGTCACATGAACCTTGC[C/G]GACAGTACCCTCCATGGGTGAGGTC

Phenotype

MIM: 616109 MIM: 612810 MIM: 608786 MIM: 605385

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C11orf80 PubMed Links

Gene Details

Gene

C11orf80

Gene Name

chromosome 11 open reading frame 80

There are no transcripts associated with this gene.

Gene

LRFN4

Gene Name

leucine rich repeat and fibronectin type III domain containing 4

There are no transcripts associated with this gene.

Gene

PC

Gene Name

pyruvate carboxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000920.3	3613	Missense Mutation	CGC,GGC	R1158G	NP_000911.2
NM_001040716.1	3613	Missense Mutation	CGC,GGC	R1158G	NP_001035806.1
NM_022172.2	3613	Missense Mutation	CGC,GGC	R1158G	NP_071504.2
XM_005274031.4	3613	Missense Mutation	CGC,GGC	R1158G	XP_005274088.1
XM_005274032.4	3613	Missense Mutation	CGC,GGC	R1158G	XP_005274089.1
XM_006718578.3	3613	Missense Mutation	CGC,GGC	R1158G	XP_006718641.1
XM_006718579.3	3613	Missense Mutation	CGC,GGC	R651G	XP_006718642.1
XM_011545086.2	3613	Missense Mutation	CGC,GGC	R1158G	XP_011543388.1
XM_011545087.2	3613	Missense Mutation	CGC,GGC	R726G	XP_011543389.1
XM_017017868.1	3613	Missense Mutation	CGC,GGC	R1158G	XP_016873357.1
XM_017017869.1	3613	Missense Mutation	CGC,GGC	R1158G	XP_016873358.1
XM_017017870.1	3613	Missense Mutation	CGC,GGC	R1158G	XP_016873359.1
XM_017017871.1	3613	Missense Mutation	CGC,GGC	R1158G	XP_016873360.1
XM_017017872.1	3613	Missense Mutation	CGC,GGC	R1158G	XP_016873361.1

Gene

RCE1

Gene Name

Ras converting CAAX endopeptidase 1

There are no transcripts associated with this gene.

View Full Product Details