Product Details

SNP ID

rs186913316

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43507558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCCCTCCTGCCACTTCCTCCT[C/T]CTCCTCTCCCTCAGAGAGGAGGTCA

Phenotype

MIM: 610060 MIM: 612658 MIM: 609775

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRRC73 PubMed Links

Gene Details

Gene

LRRC73

Gene Name

leucine rich repeat containing 73

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012974.2	644	Missense Mutation	AAG,GAG	K260E	NP_001012992.1
NM_001271882.1	644	Missense Mutation	AAG,GAG	K137E	NP_001258811.1

Gene

POLR1C

Gene Name

RNA polymerase I subunit C

There are no transcripts associated with this gene.

Gene

TJAP1

Gene Name

tight junction associated protein 1

There are no transcripts associated with this gene.

Gene

YIPF3

Gene Name

Yip1 domain family member 3

There are no transcripts associated with this gene.

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