Product Details

SNP ID

rs147594996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66848939 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAGGTCGTCACCTTCCAGTGTC[A/G]TGTCCTTGGTCACATGAACCTTGCG

Phenotype

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

Polymorphism

A/G, Transition 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	3638	Missense Mutation	ACG,ATG	T1166M	NP_000911.2
NM_001040716.1	3638	Missense Mutation	ACG,ATG	T1166M	NP_001035806.1
NM_022172.2	3638	Missense Mutation	ACG,ATG	T1166M	NP_071504.2
XM_005274031.4	3638	Missense Mutation	ACG,ATG	T1166M	XP_005274088.1
XM_005274032.4	3638	Missense Mutation	ACG,ATG	T1166M	XP_005274089.1
XM_006718578.3	3638	Missense Mutation	ACG,ATG	T1166M	XP_006718641.1
XM_006718579.3	3638	Missense Mutation	ACG,ATG	T659M	XP_006718642.1
XM_011545086.2	3638	Missense Mutation	ACG,ATG	T1166M	XP_011543388.1
XM_011545087.2	3638	Missense Mutation	ACG,ATG	T734M	XP_011543389.1
XM_017017868.1	3638	Missense Mutation	ACG,ATG	T1166M	XP_016873357.1
XM_017017869.1	3638	Missense Mutation	ACG,ATG	T1166M	XP_016873358.1
XM_017017870.1	3638	Missense Mutation	ACG,ATG	T1166M	XP_016873359.1
XM_017017871.1	3638	Missense Mutation	ACG,ATG	T1166M	XP_016873360.1
XM_017017872.1	3638	Missense Mutation	ACG,ATG	T1166M	XP_016873361.1

Gene

RCE1

Gene Name

Ras converting CAAX endopeptidase 1

There are no transcripts associated with this gene.

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