Product Details

SNP ID

rs2231770

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43512569 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGACACCAACACTGCTACCTAGG[A/G]CCATGAGAATACAGCTCAAAGGGCC

Phenotype

MIM: 610060 MIM: 612658 MIM: 607845 MIM: 609775

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRRC73 PubMed Links

Gene Details

Gene

LRRC73

Gene Name

leucine rich repeat containing 73

There are no transcripts associated with this gene.

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

XPO5

Gene Name

exportin 5

There are no transcripts associated with this gene.

Gene

YIPF3

Gene Name

Yip1 domain family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015388.3		Intron			NP_056203.2
XM_005248989.4		Intron			XP_005249046.1
XM_005248990.2		Intron			XP_005249047.1
XM_011514458.2		Intron			XP_011512760.1

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