Product Details

SNP ID

rs199710100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:19542044 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCTTTGGTTTTCCTTCCGTGCC[A/G]AACAGAGACGGGGAGTTGGCTCTGT

Phenotype

MIM: 300374

Polymorphism

A/G, 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	1870	Silent Mutation	TTC,TTT	F554F	NP_001019837.1
NM_001184960.1	1870	Silent Mutation	TTC,TTT	F353F	NP_001171889.1
NM_031892.2	1870	Silent Mutation	TTC,TTT	F591F	NP_114098.1
XM_005274494.2	1870	Silent Mutation	TTC,TTT	F616F	XP_005274551.1
XM_011545498.2	1870	Silent Mutation	TTC,TTT	F635F	XP_011543800.1
XM_011545499.2	1870	Silent Mutation	TTC,TTT	F598F	XP_011543801.1
XM_011545500.2	1870	Silent Mutation	TTC,TTT	F592F	XP_011543802.1
XM_011545502.2	1870	Silent Mutation	TTC,TTT	F370F	XP_011543804.1
XM_011545503.2	1870	Intron			XP_011543805.1
XM_017029459.1	1870	Silent Mutation	TTC,TTT	F604F	XP_016884948.1
XM_017029460.1	1870	Silent Mutation	TTC,TTT	F594F	XP_016884949.1
XM_017029461.1	1870	Silent Mutation	TTC,TTT	F575F	XP_016884950.1
XM_017029462.1	1870	Silent Mutation	TTC,TTT	F573F	XP_016884951.1
XM_017029463.1	1870	Silent Mutation	TTC,TTT	F560F	XP_016884952.1
XM_017029464.1	1870	Silent Mutation	TTC,TTT	F551F	XP_016884953.1
XM_017029465.1	1870	Silent Mutation	TTC,TTT	F550F	XP_016884954.1
XM_017029466.1	1870	Silent Mutation	TTC,TTT	F548F	XP_016884955.1
XM_017029467.1	1870	Silent Mutation	TTC,TTT	F532F	XP_016884956.1
XM_017029468.1	1870	Silent Mutation	TTC,TTT	F507F	XP_016884957.1
XM_017029469.1	1870	Silent Mutation	TTC,TTT	F330F	XP_016884958.1
XM_017029470.1	1870	Silent Mutation	TTC,TTT	F310F	XP_016884959.1

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