Product Details

SNP ID

rs141316520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42582088 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGGAGCTCCGGCAGCGCAGCCT[C/T]GTCCCGGCTGGCAGGTGGGGCCTGG

Phenotype

MIM: 616498 MIM: 602976 MIM: 608665

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM134C PubMed Links

Gene Details

Gene

FAM134C

Gene Name

family with sequence similarity 134 member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178126.3	982	Missense Mutation	AAG,GAG	K376E	NP_835227.1
XM_011524440.2	982	Missense Mutation	AAG,GAG	K279E	XP_011522742.1

Gene

MLX

Gene Name

MLX, MAX dimerization protein

There are no transcripts associated with this gene.

Gene

PSMC3IP

Gene Name

PSMC3 interacting protein

There are no transcripts associated with this gene.

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