Product Details

SNP ID

rs200137210

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:74436521 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGCTACTTCTCTGCCTCCTGCA[C/G]CTCCCTCAGTGTGGCTTGGAGGAGT

Phenotype

MIM: 614544

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAM69C PubMed Links

Gene Details

Gene

FAM69C

Gene Name

family with sequence similarity 69 member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001044369.2	1295	Missense Mutation	CTG,GTG	L414V	NP_001037834.2
XM_011525816.2	1295	Missense Mutation	CTG,GTG	L376V	XP_011524118.1
XM_017025551.1	1295	Missense Mutation	CTG,GTG	L273V	XP_016881040.1

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