Product Details

SNP ID

rs11248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:19536458 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTTCTTTATGTCGTTCACTTCCA[C/T]CTAGAAAGAGAAAAATAAGAATGGA

Phenotype

MIM: 300374

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SH3KBP1 PubMed Links

Gene Details

Gene

SH3KBP1

Gene Name

SH3 domain containing kinase binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024666.2	2054	Missense Mutation	ATG,GTG	M616V	NP_001019837.1
NM_001184960.1	2054	Missense Mutation	ATG,GTG	M415V	NP_001171889.1
NM_031892.2	2054	Missense Mutation	ATG,GTG	M653V	NP_114098.1
XM_005274494.2	2054	Missense Mutation	ATG,GTG	M678V	XP_005274551.1
XM_011545498.2	2054	Missense Mutation	ATG,GTG	M697V	XP_011543800.1
XM_011545499.2	2054	Missense Mutation	ATG,GTG	M660V	XP_011543801.1
XM_011545500.2	2054	Missense Mutation	ATG,GTG	M654V	XP_011543802.1
XM_011545502.2	2054	Missense Mutation	ATG,GTG	M432V	XP_011543804.1
XM_011545503.2	2054	Intron			XP_011543805.1
XM_017029459.1	2054	Missense Mutation	ATG,GTG	M666V	XP_016884948.1
XM_017029460.1	2054	Missense Mutation	ATG,GTG	M656V	XP_016884949.1
XM_017029461.1	2054	Missense Mutation	ATG,GTG	M637V	XP_016884950.1
XM_017029462.1	2054	Missense Mutation	ATG,GTG	M635V	XP_016884951.1
XM_017029463.1	2054	Missense Mutation	ATG,GTG	M622V	XP_016884952.1
XM_017029464.1	2054	Missense Mutation	ATG,GTG	M613V	XP_016884953.1
XM_017029465.1	2054	Missense Mutation	ATG,GTG	M612V	XP_016884954.1
XM_017029466.1	2054	Missense Mutation	ATG,GTG	M610V	XP_016884955.1
XM_017029467.1	2054	Missense Mutation	ATG,GTG	M594V	XP_016884956.1
XM_017029468.1	2054	Missense Mutation	ATG,GTG	M569V	XP_016884957.1
XM_017029469.1	2054	Missense Mutation	ATG,GTG	M392V	XP_016884958.1
XM_017029470.1	2054	Missense Mutation	ATG,GTG	M372V	XP_016884959.1

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