Product Details

SNP ID

rs142261504

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43507272 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCTCAGCCAACAGACTGTCCCCT[A/G]GTCCTGACGTCATTAGCACCATCTG

Phenotype

MIM: 610060 MIM: 612658 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012974.2	783	Missense Mutation	CCA,CTA	P306L	NP_001012992.1
NM_001271882.1	783	Missense Mutation	CCA,CTA	P183L	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146016.1	783	Intron			NP_001139488.1
NM_001146017.1	783	Intron			NP_001139489.1
NM_001146018.1	783	Intron			NP_001139490.1
NM_001146019.1	783	Intron			NP_001139491.1
NM_001146020.1	783	Intron			NP_001139492.1
NM_080604.2	783	Intron			NP_542171.2
XM_006715249.1	783	Intron			XP_006715312.1
XM_006715250.3	783	Intron			XP_006715313.1
XM_006715251.2	783	Intron			XP_006715314.1
XM_006715252.2	783	Intron			XP_006715315.1
XM_006715254.3	783	Intron			XP_006715317.1
XM_006715256.1	783	Intron			XP_006715319.1
XM_006715257.2	783	Intron			XP_006715320.1
XM_006715259.3	783	Intron			XP_006715322.1
XM_006715260.1	783	Intron			XP_006715323.1
XM_006715261.1	783	Intron			XP_006715324.1
XM_006715262.2	783	Intron			XP_006715325.1
XM_006715263.2	783	Intron			XP_006715326.1
XM_006715265.1	783	Intron			XP_006715328.1
XM_006715266.1	783	Intron			XP_006715329.1
XM_006715267.2	783	Intron			XP_006715330.1
XM_006715268.2	783	Intron			XP_006715331.1
XM_006715269.2	783	Intron			XP_006715332.1
XM_006715270.1	783	Intron			XP_006715333.1
XM_011514995.1	783	Intron			XP_011513297.1
XM_011514996.1	783	Intron			XP_011513298.1
XM_017011488.1	783	Intron			XP_016866977.1
XM_017011489.1	783	Intron			XP_016866978.1
XM_017011490.1	783	Intron			XP_016866979.1
XM_017011491.1	783	Intron			XP_016866980.1
XM_017011492.1	783	Intron			XP_016866981.1
XM_017011493.1	783	Intron			XP_016866982.1

Gene

YIPF3

Gene Name

Yip1 domain family member 3

There are no transcripts associated with this gene.

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