Product Details

SNP ID

rs140530900

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:51017565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTGTTCATTCACACGAGCAAGG[A/G]CACCTGCAGGGAAGAGAGATTCACA

Phenotype

MIM: 610317

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COBL PubMed Links

Gene Details

Gene

COBL

Gene Name

cordon-bleu WH2 repeat protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287436.1	3993	Missense Mutation	CCC,TCC	P1268S	NP_001274365.1
NM_001287438.1	3993	Intron			NP_001274367.1
NM_015198.3	3993	Missense Mutation	CCC,TCC	P1258S	NP_056013.2
XM_005271750.1	3993	Missense Mutation	CCC,TCC	P1330S	XP_005271807.1
XM_005271751.1	3993	Missense Mutation	CCC,TCC	P1315S	XP_005271808.1
XM_005271756.1	3993	Missense Mutation	CCC,TCC	P1211S	XP_005271813.1
XM_011515234.1	3993	Missense Mutation	CCC,TCC	P1355S	XP_011513536.1
XM_011515235.1	3993	Missense Mutation	CCC,TCC	P1340S	XP_011513537.1
XM_011515236.1	3993	Missense Mutation	CCC,TCC	P1308S	XP_011513538.1
XM_011515237.1	3993	Missense Mutation	CCC,TCC	P1298S	XP_011513539.1
XM_011515238.1	3993	Missense Mutation	CCC,TCC	P1267S	XP_011513540.1
XM_011515239.1	3993	Missense Mutation	CCC,TCC	P1251S	XP_011513541.1
XM_011515240.1	3993	Missense Mutation	CCC,TCC	P1236S	XP_011513542.1
XM_011515241.1	3993	Missense Mutation	CCC,TCC	P1044S	XP_011513543.1
XM_017011898.1	3993	Missense Mutation	CCC,TCC	P1273S	XP_016867387.1
XM_017011899.1	3993	Missense Mutation	CCC,TCC	P1227S	XP_016867388.1
XM_017011900.1	3993	Missense Mutation	CCC,TCC	P1170S	XP_016867389.1
XM_017011901.1	3993	Intron			XP_016867390.1

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