Product Details

SNP ID

rs200872976

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:37064806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAGACATTATTTACAAAAAAATT[G/T]CTCTAACGAGTGCTAATAAGCTGAC

Phenotype

MIM: 614571 MIM: 608667

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

C5orf42 PubMed Links

Gene Details

Gene

C5orf42

Gene Name

chromosome 5 open reading frame 42

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023073.3	8619	Intron			NP_075561.3
XM_005248345.3	8619	Intron			XP_005248402.1
XM_005248346.3	8619	Intron			XP_005248403.1
XM_005248347.3	8619	Intron			XP_005248404.1
XM_005248349.3	8619	Intron			XP_005248406.1
XM_005248350.3	8619	Intron			XP_005248407.1
XM_006714491.3	8619	Intron			XP_006714554.1
XM_011514085.2	8619	Intron			XP_011512387.1
XM_011514086.2	8619	Intron			XP_011512388.1
XM_011514087.2	8619	Intron			XP_011512389.1
XM_011514088.2	8619	Intron			XP_011512390.1
XM_011514089.2	8619	Intron			XP_011512391.1
XM_011514090.2	8619	Intron			XP_011512392.1
XM_011514092.2	8619	Intron			XP_011512394.1
XM_011514094.2	8619	Intron			XP_011512396.1
XM_017009760.1	8619	Intron			XP_016865249.1
XM_017009761.1	8619	Intron			XP_016865250.1
XM_017009762.1	8619	Intron			XP_016865251.1
XM_017009763.1	8619	Intron			XP_016865252.1
XM_017009764.1	8619	Intron			XP_016865253.1
XM_017009765.1	8619	Intron			XP_016865254.1
XM_017009766.1	8619	Intron			XP_016865255.1

Gene

NIPBL

Gene Name

NIPBL, cohesin loading factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015384.4	8619	UTR 3			NP_056199.2
NM_133433.3	8619	Missense Mutation	GCT,TCT	A2777S	NP_597677.2
XM_005248280.3	8619	UTR 3			XP_005248337.1
XM_005248282.4	8619	Missense Mutation	GCT,TCT	A2557S	XP_005248339.3
XM_006714467.2	8619	Missense Mutation	GCT,TCT	A2728S	XP_006714530.1
XM_006714468.2	8619	Missense Mutation	GCT,TCT	A2711S	XP_006714531.1
XM_011514015.1	8619	Intron			XP_011512317.1
XM_017009329.1	8619	UTR 3			XP_016864818.1
XM_017009330.1	8619	Missense Mutation	GCT,TCT	A2238S	XP_016864819.1
XM_017009331.1	8619	Missense Mutation	GCT,TCT	A2235S	XP_016864820.1

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