Product Details

SNP ID

rs202162392

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:51017564 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCTGTTCATTCACACGAGCAAG[C/G]GCACCTGCAGGGAAGAGAGATTCAC

Phenotype

MIM: 610317

Polymorphism

C/G, Transversion 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	3994	Missense Mutation	CCC,CGC	P1268R	NP_001274365.1
NM_001287438.1	3994	Intron			NP_001274367.1
NM_015198.3	3994	Missense Mutation	CCC,CGC	P1258R	NP_056013.2
XM_005271750.1	3994	Missense Mutation	CCC,CGC	P1330R	XP_005271807.1
XM_005271751.1	3994	Missense Mutation	CCC,CGC	P1315R	XP_005271808.1
XM_005271756.1	3994	Missense Mutation	CCC,CGC	P1211R	XP_005271813.1
XM_011515234.1	3994	Missense Mutation	CCC,CGC	P1355R	XP_011513536.1
XM_011515235.1	3994	Missense Mutation	CCC,CGC	P1340R	XP_011513537.1
XM_011515236.1	3994	Missense Mutation	CCC,CGC	P1308R	XP_011513538.1
XM_011515237.1	3994	Missense Mutation	CCC,CGC	P1298R	XP_011513539.1
XM_011515238.1	3994	Missense Mutation	CCC,CGC	P1267R	XP_011513540.1
XM_011515239.1	3994	Missense Mutation	CCC,CGC	P1251R	XP_011513541.1
XM_011515240.1	3994	Missense Mutation	CCC,CGC	P1236R	XP_011513542.1
XM_011515241.1	3994	Missense Mutation	CCC,CGC	P1044R	XP_011513543.1
XM_017011898.1	3994	Missense Mutation	CCC,CGC	P1273R	XP_016867387.1
XM_017011899.1	3994	Missense Mutation	CCC,CGC	P1227R	XP_016867388.1
XM_017011900.1	3994	Missense Mutation	CCC,CGC	P1170R	XP_016867389.1
XM_017011901.1	3994	Intron			XP_016867390.1

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