Product Details

SNP ID

rs143699377

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:29616006 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCCGGAGGGCGGGCGCACGTCC[A/G]GGATGTTGCGCTTCGTGACCCGGAG

Phenotype

MIM: 615124 MIM: 606779

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKRD13B PubMed Links

Gene Details

Gene

ANKRD13B

Gene Name

ankyrin repeat domain 13B

There are no transcripts associated with this gene.

Gene

CORO6

Gene Name

coronin 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032854.3	1174	Missense Mutation	CCG,CTG	P411L	NP_116243.2
XM_005258047.3	1174	Missense Mutation	CCG,CTG	P411L	XP_005258104.1
XM_005258048.4	1174	Missense Mutation	CCG,CTG	P482L	XP_005258105.2
XM_005258056.4	1174	Missense Mutation	CCG,CTG	P177L	XP_005258113.1
XM_011525385.2	1174	Missense Mutation	CCG,CTG	P482L	XP_011523687.1
XM_011525386.2	1174	Missense Mutation	CCG,CTG	P447L	XP_011523688.1
XM_011525387.2	1174	Missense Mutation	CCG,CTG	P441L	XP_011523689.1
XM_011525388.2	1174	Intron			XP_011523690.1
XM_011525389.2	1174	Intron			XP_011523691.1
XM_011525390.2	1174	Missense Mutation	CCG,CTG	P177L	XP_011523692.1
XM_011525391.2	1174	Missense Mutation	CCG,CTG	P177L	XP_011523693.1
XM_017025235.1	1174	Missense Mutation	CCG,CTG	P370L	XP_016880724.1

Gene

SSH2

Gene Name

slingshot protein phosphatase 2

There are no transcripts associated with this gene.

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